Experimental Factor Ontology (EFO) Information | |
Identifier | EFO_0009690 |
Description | A disease involving the renal system. | Trait category |
Other disease
|
Synonyms |
26 synonyms
|
Mapped terms |
10 mapped terms
|
Child trait(s) | 15 child traits |
Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
---|---|---|---|---|---|---|
PGS000071 (CC_Bladder) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Bladder cancer | urinary bladder carcinoma | 15 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000071/ScoringFiles/PGS000071.txt.gz |
PGS000076 (CC_Kidney) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Kidney cancer | renal cell carcinoma | 19 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000076/ScoringFiles/PGS000076.txt.gz |
PGS000152 (cGRS_Bladder) |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Bladder cancer | urinary bladder carcinoma | 10 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000152/ScoringFiles/PGS000152.txt.gz |
PGS000161 (cGRS_Renal) |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Renal cancer | renal carcinoma | 10 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000161/ScoringFiles/PGS000161.txt.gz |
PGS000196 (G-PROB_SLE) |
PGP000081 | Knevel R et al. Sci Transl Med (2020) |
Systemic lupus erythematosus | systemic lupus erythematosus | 250 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000196/ScoringFiles/PGS000196.txt.gz |
PGS000328 (GRS_SLE) |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Systemic lupus erythematosus | systemic lupus erythematosus | 57 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000328/ScoringFiles/PGS000328.txt.gz |
PGS000341 (GRS33_SSc) |
PGP000110 | Bossini-Castillo L et al. Ann Rheum Dis (2020) |
Systemic sclerosis | systemic scleroderma | 33 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000341/ScoringFiles/PGS000341.txt.gz | |
PGS000605 (PRSWEB_PHECODE189.11_GWAS-Catalog-r2019-05-03-X189.11_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Malignant neoplasm of kidney, except pelvis | kidney cancer | 12 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000605/ScoringFiles/PGS000605.txt.gz | |
PGS000606 (PRSWEB_PHECODE189.11_GWAS-Catalog-r2019-05-03-X189.11_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Malignant neoplasm of kidney, except pelvis | kidney cancer | 12 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000606/ScoringFiles/PGS000606.txt.gz | |
PGS000607 (PRSWEB_PHECODE189.2_20001-1035_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Bladder cancer | urinary bladder carcinoma | 1,095,241 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000607/ScoringFiles/PGS000607.txt.gz | |
PGS000608 (PRSWEB_PHECODE189.2_C3-BLADDER_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Bladder cancer | urinary bladder carcinoma | 1,097,063 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000608/ScoringFiles/PGS000608.txt.gz | |
PGS000609 (PRSWEB_PHECODE189.2_C67_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Bladder cancer | urinary bladder carcinoma | 1,130 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000609/ScoringFiles/PGS000609.txt.gz | |
PGS000610 (PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Bladder cancer | urinary bladder carcinoma | 13 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000610/ScoringFiles/PGS000610.txt.gz | |
PGS000611 (PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Bladder cancer | urinary bladder carcinoma | 13 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000611/ScoringFiles/PGS000611.txt.gz | |
PGS000612 (PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Bladder cancer | urinary bladder carcinoma | 13 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000612/ScoringFiles/PGS000612.txt.gz | |
PGS000613 (PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Bladder cancer | urinary bladder carcinoma | 15 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000613/ScoringFiles/PGS000613.txt.gz | |
PGS000614 (PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Bladder cancer | urinary bladder carcinoma | 1,119,238 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000614/ScoringFiles/PGS000614.txt.gz | |
PGS000615 (PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Bladder cancer | urinary bladder carcinoma | 106 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000615/ScoringFiles/PGS000615.txt.gz | |
PGS000616 (PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Bladder cancer | urinary bladder carcinoma | 24,359 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000616/ScoringFiles/PGS000616.txt.gz | |
PGS000708 (HC294) |
PGP000128 | Sinnott-Armstrong N et al. Nat Genet (2021) |
Kidney failure | kidney failure | 183,272 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000708/ScoringFiles/PGS000708.txt.gz |
PGS000722 (PRS_Kidney) |
PGP000135 | Jia G et al. JNCI Cancer Spectr (2020) |
Kidney cancer | renal carcinoma | 15 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000722/ScoringFiles/PGS000722.txt.gz |
PGS000723 (PRS_Bladder) |
PGP000135 | Jia G et al. JNCI Cancer Spectr (2020) |
Bladder cancer | urinary bladder carcinoma | 14 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000723/ScoringFiles/PGS000723.txt.gz |
PGS000728 (CKD_PGS) |
PGP000137 | Ritchie SC et al. Nat Metab (2021) |
Chronic kidney disease | chronic kidney disease | 1,958,860 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000728/ScoringFiles/PGS000728.txt.gz |
PGS000754 (PRS_SLE) |
PGP000160 | Wang YF et al. Nat Commun (2021) |
Systemic lupus erythematosus | systemic lupus erythematosus | 293,684 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000754/ScoringFiles/PGS000754.txt.gz |
PGS000771 (GRS95_SLEmain) |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Systemic lupus erythematosus | systemic lupus erythematosus | 95 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000771/ScoringFiles/PGS000771.txt.gz | |
PGS000772 (GRS95_SLEgen) |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Systemic lupus erythematosus | systemic lupus erythematosus | 95 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000772/ScoringFiles/PGS000772.txt.gz | |
PGS000782 (CC_Bladder_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Bladder cancer | urinary bladder carcinoma | 15 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000782/ScoringFiles/PGS000782.txt.gz |
PGS000787 (CC_Kidney_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Kidney cancer | renal cell carcinoma | 19 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000787/ScoringFiles/PGS000787.txt.gz |
PGS000803 (wGRS41_SLE) |
PGP000192 | Kawai VK et al. Lupus (2021) |
Systemic lupus erythematosus | systemic lupus erythematosus | 41 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000803/ScoringFiles/PGS000803.txt.gz |
PGS000859 (CKD) |
PGP000211 | Aly DM et al. Nat Genet (2021) |
Chronic kidney disease | chronic kidney disease | 34 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000859/ScoringFiles/PGS000859.txt.gz |
PGS001174 (GBE_HC1125) |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Cholelithiasis (time-to-event) | cholelithiasis | 970 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001174/ScoringFiles/PGS001174.txt.gz |
PGS001250 (GBE_HC1304) |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Calculus of kidney and ureter (time-to-event) | nephrolithiasis, ureterolithiasis |
341 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001250/ScoringFiles/PGS001250.txt.gz |
PGS001272 (GBE_HC1302) |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Chronic renal failure (time-to-event) | chronic kidney disease | 158 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001272/ScoringFiles/PGS001272.txt.gz |
PGS001807 (portability-PLR_189.2) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Bladder cancer | urinary bladder carcinoma | 291 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001807/ScoringFiles/PGS001807.txt.gz |
PGS001861 (portability-PLR_574) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Cholelithiasis and cholecystitis | cholelithiasis, Cholecystitis |
2,059 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001861/ScoringFiles/PGS001861.txt.gz |
PGS001864 (portability-PLR_594) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Urinary calculus | urolithiasis | 5,599 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001864/ScoringFiles/PGS001864.txt.gz |
PGS002017 (portability-ldpred2_189.2) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Bladder cancer | urinary bladder carcinoma | 510,453 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002017/ScoringFiles/PGS002017.txt.gz |
PGS002072 (portability-ldpred2_574) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Cholelithiasis and cholecystitis | cholelithiasis, Cholecystitis |
428,587 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002072/ScoringFiles/PGS002072.txt.gz |
PGS002075 (portability-ldpred2_594) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Urinary calculus | urolithiasis | 731,196 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002075/ScoringFiles/PGS002075.txt.gz |
PGS002237 (GPS_CKD) |
PGP000269 | Khan A et al. Nat Med (2022) |
Chronic kidney disease (stage 3 or greater) | chronic kidney disease | 471,316 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002237/ScoringFiles/PGS002237.txt.gz |
PGS002757 (eGFR_prscs) |
PGP000364 | Mars N et al. Am J Hum Genet (2022) |
Chronic kidney disease | chronic kidney disease | 1,090,783 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002757/ScoringFiles/PGS002757.txt.gz |
PGS003335 (GRS18_BC) |
PGP000404 | Teleka S et al. Sci Rep (2022) |
Bladder cancer | urinary bladder carcinoma | 18 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003335/ScoringFiles/PGS003335.txt.gz |
PGS003354 (SSNS-GRS) |
PGP000407 | Downie ML et al. Pediatr Nephrol (2022) |
Childhood steroid-sensitive nephrotic syndrome | nephrotic syndrome | 5 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003354/ScoringFiles/PGS003354.txt.gz |
PGS003736 (PRS13_BlC) |
PGP000470 | Xin J et al. EBioMedicine (2023) |
Bladder cancer | urinary bladder cancer | 13 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003736/ScoringFiles/PGS003736.txt.gz | |
PGS003744 (PRS14_RC) |
PGP000470 | Xin J et al. EBioMedicine (2023) |
Renal cancer | renal carcinoma | 14 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003744/ScoringFiles/PGS003744.txt.gz | |
PGS003755 (wGRS_SLE) |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Systemic lupus erythematosus | systemic lupus erythematosus | 122 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003755/ScoringFiles/PGS003755.txt.gz |
PGS003756 (wGRS_SLE_non-HLA) |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Systemic lupus erythematosus | systemic lupus erythematosus | 112 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003756/ScoringFiles/PGS003756.txt.gz |
PGS003757 (wGRS_SLE_HLA) |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Systemic lupus erythematosus | systemic lupus erythematosus | 10 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003757/ScoringFiles/PGS003757.txt.gz |
PGS003960 (GRS57_SLE) |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Systemic lupus erythematosus | systemic lupus erythematosus | 57 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003960/ScoringFiles/PGS003960.txt.gz |
PGS003988 (dbslmm.auto.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 1,141,637 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003988/ScoringFiles/PGS003988.txt.gz |
PGS004004 (lassosum.auto.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 15,373 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004004/ScoringFiles/PGS004004.txt.gz |
PGS004016 (lassosum.CV.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 88,605 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004016/ScoringFiles/PGS004016.txt.gz |
PGS004030 (ldpred2.auto.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 1,050,295 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004030/ScoringFiles/PGS004030.txt.gz |
PGS004045 (ldpred2.CV.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 1,050,295 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004045/ScoringFiles/PGS004045.txt.gz |
PGS004058 (megaprs.auto.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 846,995 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004058/ScoringFiles/PGS004058.txt.gz |
PGS004074 (megaprs.CV.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 846,995 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004074/ScoringFiles/PGS004074.txt.gz |
PGS004088 (prscs.auto.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 1,109,217 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004088/ScoringFiles/PGS004088.txt.gz |
PGS004101 (prscs.CV.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 1,109,217 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004101/ScoringFiles/PGS004101.txt.gz |
PGS004112 (pt_clump.auto.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 301 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004112/ScoringFiles/PGS004112.txt.gz |
PGS004128 (pt_clump_nested.CV.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 8,543 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004128/ScoringFiles/PGS004128.txt.gz |
PGS004142 (sbayesr.auto.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 804,867 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004142/ScoringFiles/PGS004142.txt.gz |
PGS004158 (UKBB_EnsPGS.GCST008059.CKD) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Chronic kidney disease (CKD) | chronic kidney disease | 1,135,455 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004158/ScoringFiles/PGS004158.txt.gz |
PGS004224 (GRS241_CKD) |
PGP000524 | Lan R et al. Tob Induc Dis (2023) |
Chronic kidney disease | chronic kidney disease | 241 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004224/ScoringFiles/PGS004224.txt.gz |
PGS004241 (PRS12_bladder) |
PGP000542 | Kim ES et al. NPJ Precis Oncol (2023) |
Bladder cancer | urinary bladder carcinoma | 12 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004241/ScoringFiles/PGS004241.txt.gz |
PGS004245 (PRS12_kidney) |
PGP000542 | Kim ES et al. NPJ Precis Oncol (2023) |
Kidney cancer | renal cell carcinoma | 12 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004245/ScoringFiles/PGS004245.txt.gz |
PGS004476 (disease.K80.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
K80 (Cholelithiasis) | cholelithiasis | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004476/ScoringFiles/PGS004476.txt.gz |
PGS004491 (disease.N17.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
N17 (Acute renal failure) | acute kidney failure | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004491/ScoringFiles/PGS004491.txt.gz |
PGS004492 (disease.N18.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
N18 (Chronic renal failure) | kidney failure | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004492/ScoringFiles/PGS004492.txt.gz |
PGS004493 (disease.N20.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
N20 (Calculus of kidney and ureter) | nephrolithiasis | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004493/ScoringFiles/PGS004493.txt.gz |
PGS004494 (disease.N39.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
N39 (Other disorders of urinary system) | urinary system disease | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004494/ScoringFiles/PGS004494.txt.gz |
PGS004546 (meta.K80.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
K80 (Cholelithiasis) | cholelithiasis | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004546/ScoringFiles/PGS004546.txt.gz |
PGS004561 (meta.N17.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
N17 (Acute renal failure) | acute kidney failure | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004561/ScoringFiles/PGS004561.txt.gz |
PGS004562 (meta.N18.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
N18 (Chronic renal failure) | kidney failure | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004562/ScoringFiles/PGS004562.txt.gz |
PGS004563 (meta.N20.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
N20 (Calculus of kidney and ureter) | nephrolithiasis | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004563/ScoringFiles/PGS004563.txt.gz |
PGS004564 (meta.N39.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
N39 (Other disorders of urinary system) | urinary system disease | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004564/ScoringFiles/PGS004564.txt.gz |
PGS004687 (bladder_cancer) |
PGP000596 | Hu J et al. JNCI Cancer Spectr (2024) |
Bladder cancer | urinary bladder carcinoma | 1,077,775 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004687/ScoringFiles/PGS004687.txt.gz | |
PGS004690 (kidney_cancer) |
PGP000596 | Hu J et al. JNCI Cancer Spectr (2024) |
Kidney cancer | renal carcinoma | 6,351,669 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004690/ScoringFiles/PGS004690.txt.gz | |
PGS004889 (CKD_gePGS) |
PGP000619 | Mandla R et al. Genome Med (2024) |
Chronic kidney disease | chronic kidney disease | 1,117,375 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004889/ScoringFiles/PGS004889.txt.gz | |
PGS004908 (PRS107_KC) |
PGP000640 | Purdue MP et al. Nat Genet (2024) |
Kidney cancer | renal carcinoma | 107 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004908/ScoringFiles/PGS004908.txt.gz |
PGS004917 (wGRS) |
PGP000648 | Cui J et al. Arthritis Rheumatol (2020) |
Systemic lupus erythematosus | systemic lupus erythematosus | 97 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004917/ScoringFiles/PGS004917.txt.gz |
PGS Performance Metric ID (PPM) |
Evaluated Score |
PGS Sample Set ID (PSS) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
Classification Metrics | Other Metrics | Covariates Included in the Model |
PGS Performance: Other Relevant Information |
---|---|---|---|---|---|---|---|---|---|
PPM000191 | PGS000071 (CC_Bladder) |
PSS000110| European Ancestry| 412,602 individuals |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Reported Trait: Bladder cancer | OR: 1.3 [1.25, 1.36] | — | — | Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. | Results from meta-analysis of GERA and UKB |
PPM002037 | PGS000071 (CC_Bladder) |
PSS001010| European Ancestry| 391,888 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident blader cancer | HR: 1.28 [1.2, 1.37] | AUROC: 0.803 C-index: 0.813 (0.008) |
— | Age at assessment, sex, genotyping array, PCs(1-15), cigarette pack-years, smoking status(never vs. former vs. current), body mass index | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM017172 | PGS000071 (CC_Bladder) |
PSS010143| European Ancestry| 424 individuals |
PGP000443 | Byrne S et al. Int J Epidemiol (2023) |Ext. |
Reported Trait: Bladder cancer | HR: 1.21 [1.1, 1.33] | — | — | age at baseline, sex (where relevant), assessment centre, 40 principal components of ancestries (PCs), Townsend Index, education, birth location, income, lifestyle index | — |
PPM000196 | PGS000076 (CC_Kidney) |
PSS000115| European Ancestry| 411,695 individuals |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Reported Trait: Kidney cancer | OR: 1.21 [1.14, 1.27] | — | — | Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. | Results from meta-analysis of GERA and UKB |
PPM002042 | PGS000076 (CC_Kidney) |
PSS001015| European Ancestry| 391,610 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident kidney cancer | HR: 1.16 [1.08, 1.26] | AUROC: 0.722 C-index: 0.724 (0.011) |
— | Age at assessment, sex, genotyping array, PCs(1-15), body mass index, smoking status (never vs. former vs. current), cigarette pack-years, ever diagnosed with hypertension | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM017169 | PGS000076 (CC_Kidney) |
PSS010145| European Ancestry| 547 individuals |
PGP000443 | Byrne S et al. Int J Epidemiol (2023) |Ext. |
Reported Trait: Kidney cancer | HR: 1.14 [1.05, 1.24] | — | — | age at baseline, sex (where relevant), assessment centre, 40 principal components of ancestries (PCs), Townsend Index, education, birth location, income, lifestyle index, additional cancer-specific covariates | — |
PPM000472 | PGS000152 (cGRS_Bladder) |
PSS000272| European Ancestry| 13,770 individuals |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Reported Trait: Bladder cancer | — | — | Mean realative risk: 1.04 [1.0, 1.08] Wilcoxon test (case vs. control) p-value: 0.00377 |
— | — |
PPM000483 | PGS000152 (cGRS_Bladder) |
PSS000272| European Ancestry| 13,770 individuals |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Reported Trait: Bladder cancer | — | — | Odds Ratio (OR; high vs. average risk groups): 1.58 [1.1, 2.25] | — | — |
PPM000492 | PGS000161 (cGRS_Renal) |
PSS000281| European Ancestry| 13,880 individuals |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Reported Trait: Renal cancer | — | — | Odds Ratio (OR; high vs. average risk groups): 1.58 [1.14, 2.18] | — | — |
PPM000481 | PGS000161 (cGRS_Renal) |
PSS000281| European Ancestry| 13,880 individuals |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Reported Trait: Renal cancer | — | — | Mean realative risk: 1.09 [1.06, 1.12] Wilcoxon test (case vs. control) p-value: 8.66e-10 |
— | — |
PPM000579 | PGS000196 (G-PROB_SLE) |
PSS000319| European Ancestry| 243 individuals |
PGP000081 | Knevel R et al. Sci Transl Med (2020) |
Reported Trait: Systemic lupus erythematosus diagnosis in patient with arthritis | — | AUROC: 0.61 [0.27, 0.86] | — | — | (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit) |
PPM000573 | PGS000196 (G-PROB_SLE) |
PSS000318| European Ancestry| 245 individuals |
PGP000081 | Knevel R et al. Sci Transl Med (2020) |
Reported Trait: Systemic lupus erythematosus diagnosis in patient with arthritis | — | AUROC: 0.79 [0.72, 0.85] | — | — | (Setting II: Assigning patient diagnoses based on medical records) |
PPM000567 | PGS000196 (G-PROB_SLE) |
PSS000324| Multi-ancestry (including European)| 1,211 individuals |
PGP000081 | Knevel R et al. Sci Transl Med (2020) |
Reported Trait: Systemic lupus erythematosus diagnosis in patient with arthritis | — | AUROC: 0.74 [0.7, 0.78] | — | — | (Setting I: Assigning patient diagnoses based on billing codes) |
PPM000882 | PGS000328 (GRS_SLE) |
PSS000438| European Ancestry| 15,383 individuals |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.71 | Odds Ratio (OR; highest vs. lowest quartile): 7.48 [6.73, 8.32] | — | — |
PPM000880 | PGS000328 (GRS_SLE) |
PSS000436| European Ancestry| 3,803 individuals |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.78 | Odds Ratio (OR; highest vs. lowest quartile): 12.32 [9.53, 15.71] | — | — |
PPM000883 | PGS000328 (GRS_SLE) |
PSS000436| European Ancestry| 3,803 individuals |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Reported Trait: Systemic Lupus damage score (SDI) | OR: 1.13 [1.03, 1.24] | — | Odds Ratio (OR; highest vs. lowest quartile): 1.47 [1.06, 2.04] | — | — |
PPM000881 | PGS000328 (GRS_SLE) |
PSS000437| European Ancestry| 1,001 individuals |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Reported Trait: Systemic lupus erythematosus (onset before age 20) | — | AUROC: 0.83 | — | — | — |
PPM000885 | PGS000328 (GRS_SLE) |
PSS000437| European Ancestry| 1,001 individuals |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Reported Trait: Nephritis in systemic lupus erythematosus patients | — | — | Hazard Ratio (HR; highest vs. lowest quartile): 2.53 [1.72, 3.71] | — | — |
PPM000884 | PGS000328 (GRS_SLE) |
PSS000436| European Ancestry| 3,803 individuals |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Reported Trait: Systemic lupus erythematosus (age-at-onset) | — | — | Hazard Ratio (HR; highest vs. lowest quartile): 1.47 [1.22, 1.75] | — | — |
PPM000970 | PGS000341 (GRS33_SSc) |
PSS000489| European Ancestry| 339 individuals |
PGP000110 | Bossini-Castillo L et al. Ann Rheum Dis (2020) |
Reported Trait: Systemic sclerosis | — | AUROC: 0.787 [0.73, 0.84] | — | Systemic sclerosis status, age and immune cell counts of: memory B cells, resting NK cells, M0 macrophages and activated dendritic cells | *Some overlap with score development and testing samples |
PPM000969 | PGS000341 (GRS33_SSc) |
PSS000489| European Ancestry| 339 individuals |
PGP000110 | Bossini-Castillo L et al. Ann Rheum Dis (2020) |
Reported Trait: Systemic sclerosis | — | AUROC: 0.722 | — | Systemic sclerosis status and immune cell counts of: memory B cells, resting NK cells, M0 macrophages and activated dendritic cells | *Some overlap with score development and testing samples |
PPM000968 | PGS000341 (GRS33_SSc) |
PSS000489| European Ancestry| 339 individuals |
PGP000110 | Bossini-Castillo L et al. Ann Rheum Dis (2020) |
Reported Trait: Systemic sclerosis | — | AUROC: 0.644 | — | — | *Some overlap with score development and testing samples |
PPM001290 | PGS000605 (PRSWEB_PHECODE189.11_GWAS-Catalog-r2019-05-03-X189.11_P_5e-08_UKB_20200608) |
PSS000575| European Ancestry| 5,818 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Malignant neoplasm of kidney, except pelvis | OR: 1.154 [1.062, 1.254] β: 0.143 (0.0426) |
AUROC: 0.517 [0.492, 0.54] | Nagelkerke's Pseudo-R²: 0.00398 Brier score: 0.0825 Odds Ratio (OR, top 1% vs. Rest): 2.17 [1.13, 4.14] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.11_GWAS-Catalog-r2019-05-03-X189.11_P_5e-08_UKB_20200608 |
PPM001291 | PGS000606 (PRSWEB_PHECODE189.11_GWAS-Catalog-r2019-05-03-X189.11_PT_UKB_20200608) |
PSS000575| European Ancestry| 5,818 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Malignant neoplasm of kidney, except pelvis | OR: 1.154 [1.062, 1.254] β: 0.143 (0.0426) |
AUROC: 0.517 [0.492, 0.54] | Nagelkerke's Pseudo-R²: 0.00398 Brier score: 0.0825 Odds Ratio (OR, top 1% vs. Rest): 2.17 [1.13, 4.14] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.11_GWAS-Catalog-r2019-05-03-X189.11_PT_UKB_20200608 |
PPM001292 | PGS000607 (PRSWEB_PHECODE189.2_20001-1035_PRS-CS_MGI_20200608) |
PSS000555| European Ancestry| 7,622 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of bladder | OR: 1.096 [1.018, 1.18] β: 0.0918 (0.0377) |
AUROC: 0.531 [0.509, 0.551] | Nagelkerke's Pseudo-R²: 0.00156 Brier score: 0.0922 Odds Ratio (OR, top 1% vs. Rest): 0.671 [0.279, 1.61] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_20001-1035_PRS-CS_MGI_20200608 |
PPM001293 | PGS000608 (PRSWEB_PHECODE189.2_C3-BLADDER_PRS-CS_MGI_20200608) |
PSS000555| European Ancestry| 7,622 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of bladder | OR: 1.084 [1.006, 1.167] β: 0.0803 (0.0377) |
AUROC: 0.521 [0.499, 0.541] | Nagelkerke's Pseudo-R²: 0.00124 Brier score: 0.0922 Odds Ratio (OR, top 1% vs. Rest): 1.53 [0.832, 2.83] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_C3-BLADDER_PRS-CS_MGI_20200608 |
PPM001294 | PGS000609 (PRSWEB_PHECODE189.2_C67_LASSOSUM_MGI_20200608) |
PSS000555| European Ancestry| 7,622 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of bladder | OR: 1.106 [1.027, 1.191] β: 0.101 (0.0376) |
AUROC: 0.528 [0.508, 0.549] | Nagelkerke's Pseudo-R²: 0.00205 Brier score: 0.0922 Odds Ratio (OR, top 1% vs. Rest): 1.69 [0.934, 3.06] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_C67_LASSOSUM_MGI_20200608 |
PPM001295 | PGS000610 (PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_P_5e-08_MGI_20200608) |
PSS000555| European Ancestry| 7,622 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of bladder | OR: 1.292 [1.201, 1.391] β: 0.256 (0.0375) |
AUROC: 0.572 [0.55, 0.594] | Nagelkerke's Pseudo-R²: 0.013 Brier score: 0.0917 Odds Ratio (OR, top 1% vs. Rest): 1.47 [0.779, 2.77] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_P_5e-08_MGI_20200608 |
PPM001296 | PGS000611 (PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_P_5e-08_UKB_20200608) |
PSS000576| European Ancestry| 13,530 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of bladder | OR: 1.284 [1.211, 1.361] β: 0.25 (0.0298) |
AUROC: 0.567 [0.551, 0.584] | Nagelkerke's Pseudo-R²: 0.0114 Brier score: 0.0821 Odds Ratio (OR, top 1% vs. Rest): 2.66 [1.79, 3.93] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_P_5e-08_UKB_20200608 |
PPM001297 | PGS000612 (PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_PT_MGI_20200608) |
PSS000555| European Ancestry| 7,622 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of bladder | OR: 1.292 [1.201, 1.391] β: 0.256 (0.0375) |
AUROC: 0.572 [0.55, 0.594] | Nagelkerke's Pseudo-R²: 0.013 Brier score: 0.0917 Odds Ratio (OR, top 1% vs. Rest): 1.47 [0.779, 2.77] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_PT_MGI_20200608 |
PPM001298 | PGS000613 (PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_PT_UKB_20200608) |
PSS000576| European Ancestry| 13,530 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of bladder | OR: 1.301 [1.227, 1.379] β: 0.263 (0.0299) |
AUROC: 0.571 [0.555, 0.588] | Nagelkerke's Pseudo-R²: 0.0125 Brier score: 0.0821 Odds Ratio (OR, top 1% vs. Rest): 2.91 [1.99, 4.24] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_PT_UKB_20200608 |
PPM001299 | PGS000614 (PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_PRS-CS_MGI_20200608) |
PSS000555| European Ancestry| 7,622 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of bladder | OR: 1.087 [1.01, 1.171] β: 0.0836 (0.0377) |
AUROC: 0.525 [0.503, 0.547] | Nagelkerke's Pseudo-R²: 0.00135 Brier score: 0.0922 Odds Ratio (OR, top 1% vs. Rest): 0.675 [0.28, 1.62] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_PRS-CS_MGI_20200608 |
PPM001300 | PGS000615 (PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_PT_MGI_20200608) |
PSS000555| European Ancestry| 7,622 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of bladder | OR: 1.084 [1.007, 1.167] β: 0.0809 (0.0376) |
AUROC: 0.519 [0.498, 0.541] | Nagelkerke's Pseudo-R²: 0.00137 Brier score: 0.0922 Odds Ratio (OR, top 1% vs. Rest): 0.788 [0.35, 1.78] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_PT_MGI_20200608 |
PPM001301 | PGS000616 (PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_LASSOSUM_MGI_20200608) |
PSS000555| European Ancestry| 7,622 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of bladder | OR: 1.138 [1.057, 1.225] β: 0.129 (0.0376) |
AUROC: 0.538 [0.517, 0.557] | Nagelkerke's Pseudo-R²: 0.00345 Brier score: 0.0921 Odds Ratio (OR, top 1% vs. Rest): 0.983 [0.459, 2.11] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_LASSOSUM_MGI_20200608 |
PPM001608 | PGS000708 (HC294) |
PSS000829| European Ancestry| 135,300 individuals |
PGP000128 | Sinnott-Armstrong N et al. Nat Genet (2021) |
Reported Trait: Renal failure | HR: 1.12 [1.08, 1.16] | C-index: 0.667 | — | Age as time scale, sex, batch, PCs(1-10) | — |
PPM001600 | PGS000708 (HC294) |
PSS000823| European Ancestry| 87,413 individuals |
PGP000128 | Sinnott-Armstrong N et al. Nat Genet (2021) |
Reported Trait: Kidney failure | — | AUROC: 0.56142 | — | Age, sex, PCs(1-10) | — |
PPM001609 | PGS000708 (HC294) |
PSS000804| European Ancestry| 135,300 individuals |
PGP000128 | Sinnott-Armstrong N et al. Nat Genet (2021) |
Reported Trait: Dialysis | HR: 1.13 [1.04, 1.23] | C-index: 0.745 | — | Age as time scale, sex, batch, PCs(1-10) | — |
PPM001610 | PGS000708 (HC294) |
PSS000682| European Ancestry| 135,300 individuals |
PGP000128 | Sinnott-Armstrong N et al. Nat Genet (2021) |
Reported Trait: Diabetic kidney failure in all | HR: 1.19 [1.13, 1.26] | C-index: 0.779 | — | Age as time scale, sex, batch, PCs(1-10) | — |
PPM001611 | PGS000708 (HC294) |
PSS000682| European Ancestry| 135,300 individuals |
PGP000128 | Sinnott-Armstrong N et al. Nat Genet (2021) |
Reported Trait: Diabetic kidney failure in diabetics | HR: 1.08 [1.02, 1.14] | C-index: 0.706 | — | Age as time scale, sex, batch, PCs(1-10) | — |
PPM001612 | PGS000708 (HC294) |
PSS000683| European Ancestry| 135,300 individuals |
PGP000128 | Sinnott-Armstrong N et al. Nat Genet (2021) |
Reported Trait: Diabetic kidney failure in type 2 diabetics | HR: 1.13 [1.04, 1.24] | C-index: 0.634 | — | Age as time scale, sex, batch, PCs(1-10) | — |
PPM001652 | PGS000722 (PRS_Kidney) |
PSS000856| European Ancestry| 400,812 individuals |
PGP000135 | Jia G et al. JNCI Cancer Spectr (2020) |
Reported Trait: Incident kidney cancer | — | AUROC: 0.567 [0.543, 0.591] | — | Genotyping array | — |
PPM001653 | PGS000723 (PRS_Bladder) |
PSS000853| European Ancestry| 400,812 individuals |
PGP000135 | Jia G et al. JNCI Cancer Spectr (2020) |
Reported Trait: Incident bladder cancer | — | AUROC: 0.583 [0.559, 0.607] | — | Genotyping array | — |
PPM001669 | PGS000728 (CKD_PGS) |
PSS000870| European Ancestry| 3,037 individuals |
PGP000137 | Ritchie SC et al. Nat Metab (2021) |
Reported Trait: Estimated Glomerular Filtration Rate (eGFR) | β: -0.9 [-1.45, -0.36] | — | — | age, sex, 10 genetic PCs | — |
PPM001919 | PGS000754 (PRS_SLE) |
PSS000963| East Asian Ancestry| 2,589 individuals |
PGP000160 | Wang YF et al. Nat Commun (2021) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.76 [0.74, 0.78] | — | — | — |
PPM001920 | PGS000754 (PRS_SLE) |
PSS000960| European Ancestry| 1,340 individuals |
PGP000160 | Wang YF et al. Nat Commun (2021) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.65 | — | — | — |
PPM001921 | PGS000754 (PRS_SLE) |
PSS000961| European Ancestry| 7,733 individuals |
PGP000160 | Wang YF et al. Nat Commun (2021) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.65 | — | — | — |
PPM001922 | PGS000754 (PRS_SLE) |
PSS000962| European Ancestry| 1,112 individuals |
PGP000160 | Wang YF et al. Nat Commun (2021) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.62 | — | — | — |
PPM002076 | PGS000754 (PRS_SLE) |
PSS001027| Additional Asian Ancestries| 3,996 individuals |
PGP000188 | Tangtanatakul P et al. Arthritis Res Ther (2020) |Ext. |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.76 | — | — | — |
PPM001996 | PGS000771 (GRS95_SLEmain) |
PSS000994| European Ancestry| 524 individuals |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Reported Trait: Renal disease age of onset | — | AUROC: 0.576 [0.518, 0.634] | — | — | Renal disease is used as a proxy for systemic lupus erythematosus severity |
PPM001998 | PGS000771 (GRS95_SLEmain) |
PSS000994| European Ancestry| 524 individuals |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Reported Trait: Renal disease age of onset | — | — | Odds Ratio (OR, top 20% vs bottom 20%): 3.155 [1.623, 6.133] | — | Renal disease is used as a proxy for systemic lupus erythematosus severity |
PPM001997 | PGS000772 (GRS95_SLEgen) |
PSS000993| European Ancestry| 3,101 individuals |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Reported Trait: Renal disease | — | — | Odds Ratio (OR, top 20% vs bottom 20%): 1.578 [1.25, 1.991] | — | Renal disease is used as a proxy for systemic lupus erythematosus severity |
PPM002053 | PGS000782 (CC_Bladder_IV) |
PSS001010| European Ancestry| 391,888 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident blader cancer | HR: 1.3 [1.22, 1.39] | AUROC: 0.804 C-index: 0.814 (0.008) |
R²: 0.628 | Age at assessment, sex, genotyping array, PCs(1-15), cigarette pack-years, smoking status(never vs. former vs. current), body mass index | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002058 | PGS000787 (CC_Kidney_IV) |
PSS001015| European Ancestry| 391,610 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident kidney cancer | HR: 1.15 [1.07, 1.24] | AUROC: 0.722 C-index: 0.723 (0.011) |
R²: 0.366 | Age at assessment, sex, genotyping array, PCs(1-15), body mass index, smoking status (never vs. former vs. current), cigarette pack-years, ever diagnosed with hypertension | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
PPM002100 | PGS000803 (wGRS41_SLE) |
PSS001038| European Ancestry| 47,904 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Lupus (localised and systemic) | OR: 1.73 [1.62, 1.85] β: 0.546 (0.034) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002101 | PGS000803 (wGRS41_SLE) |
PSS001043| European Ancestry| 18,722 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Lupus (localised and systemic) | OR: 1.82 [1.66, 2.0] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002102 | PGS000803 (wGRS41_SLE) |
PSS001035| European Ancestry| 47,917 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Systemic lupus erythematosus | OR: 1.71 [1.6, 1.82] β: 0.534 (0.034) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002103 | PGS000803 (wGRS41_SLE) |
PSS001040| European Ancestry| 18,698 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Systemic lupus erythematosus | OR: 1.86 [1.69, 2.04] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002104 | PGS000803 (wGRS41_SLE) |
PSS001037| European Ancestry| 50,429 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Erythematous conditions | OR: 1.28 [1.22, 1.34] β: 0.246 (0.024) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002105 | PGS000803 (wGRS41_SLE) |
PSS001042| European Ancestry| 21,474 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Erythematous conditions | OR: 1.08 [1.04, 1.13] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002106 | PGS000803 (wGRS41_SLE) |
PSS001034| European Ancestry| 47,321 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Cutaneous lupus erythematosus | OR: 1.79 [1.54, 2.08] β: 0.582 (0.078) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002107 | PGS000803 (wGRS41_SLE) |
PSS001039| European Ancestry| 18,422 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Cutaneous lupus erythematosus | OR: 2.02 [1.71, 2.4] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002108 | PGS000803 (wGRS41_SLE) |
PSS001036| European Ancestry| 40,528 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes | OR: 1.11 [1.06, 1.17] β: 0.108 (0.024) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002109 | PGS000803 (wGRS41_SLE) |
PSS001041| European Ancestry| 19,191 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes | OR: 1.11 [1.05, 1.18] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002110 | PGS000803 (wGRS41_SLE) |
PSS001036| European Ancestry| 40,528 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes with renal manifestations | OR: 1.41 [1.26, 1.59] β: 0.346 (0.06) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002111 | PGS000803 (wGRS41_SLE) |
PSS001041| European Ancestry| 19,191 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes with renal manifestations | OR: 1.38 [1.19, 1.6] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002112 | PGS000803 (wGRS41_SLE) |
PSS001036| European Ancestry| 40,528 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes with opthalmic manifestations | OR: 1.32 [1.16, 1.5] β: 0.275 (0.065) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002113 | PGS000803 (wGRS41_SLE) |
PSS001041| European Ancestry| 19,191 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes with opthalmic manifestations | OR: 1.34 [1.18, 1.52] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002114 | PGS000803 (wGRS41_SLE) |
PSS001036| European Ancestry| 40,528 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes with neurological manifestations | OR: 1.16 [1.06, 1.28] β: 0.151 (0.047) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
PPM002378 | PGS000859 (CKD) |
PSS001086| European Ancestry| 3,194 individuals |
PGP000211 | Aly DM et al. Nat Genet (2021) |
Reported Trait: Severe Autoimmune Diabetes | OR: 0.97 [0.88, 1.08] | — | — | PC1-10 | — |
PPM002379 | PGS000859 (CKD) |
PSS001087| European Ancestry| 3,930 individuals |
PGP000211 | Aly DM et al. Nat Genet (2021) |
Reported Trait: Severe Insulin-Deficient Diabetes | OR: 0.98 [0.91, 1.05] | — | — | PC1-10 | — |
PPM002380 | PGS000859 (CKD) |
PSS001088| European Ancestry| 3,869 individuals |
PGP000211 | Aly DM et al. Nat Genet (2021) |
Reported Trait: Severe Insulin-Resistant Diabetes | OR: 1.07 [1.0, 1.15] | — | — | PC1-10 | — |
PPM002381 | PGS000859 (CKD) |
PSS001085| European Ancestry| 4,116 individuals |
PGP000211 | Aly DM et al. Nat Genet (2021) |
Reported Trait: Moderate Obesity-related Diabetes | OR: 1.0 [0.93, 1.06] | — | — | PC1-10 | — |
PPM002382 | PGS000859 (CKD) |
PSS001084| European Ancestry| 5,597 individuals |
PGP000211 | Aly DM et al. Nat Genet (2021) |
Reported Trait: Moderate Age-Related Diabetes | OR: 0.98 [0.93, 1.03] | — | — | PC1-10 | — |
PPM008580 | PGS001174 (GBE_HC1125) |
PSS004139| African Ancestry| 6,497 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE cholelithiasis | — | AUROC: 0.69202 [0.6517, 0.73234] | R²: 0.05473 Incremental AUROC (full-covars): 0.01651 PGS R2 (no covariates): 0.00765 PGS AUROC (no covariates): 0.56963 [0.52438, 0.61487] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008581 | PGS001174 (GBE_HC1125) |
PSS004140| East Asian Ancestry| 1,704 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE cholelithiasis | — | AUROC: 0.69749 [0.6348, 0.76018] | R²: 0.06838 Incremental AUROC (full-covars): 0.01442 PGS R2 (no covariates): 0.00347 PGS AUROC (no covariates): 0.557 [0.48585, 0.62815] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008582 | PGS001174 (GBE_HC1125) |
PSS004141| European Ancestry| 24,905 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE cholelithiasis | — | AUROC: 0.66706 [0.6514, 0.68272] | R²: 0.05295 Incremental AUROC (full-covars): 0.04311 PGS R2 (no covariates): 0.02808 PGS AUROC (no covariates): 0.62342 [0.60688, 0.63996] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008583 | PGS001174 (GBE_HC1125) |
PSS004142| South Asian Ancestry| 7,831 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE cholelithiasis | — | AUROC: 0.68516 [0.65563, 0.7147] | R²: 0.05864 Incremental AUROC (full-covars): 0.01084 PGS R2 (no covariates): 0.00661 PGS AUROC (no covariates): 0.55746 [0.52498, 0.58993] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008584 | PGS001174 (GBE_HC1125) |
PSS004143| European Ancestry| 67,425 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE cholelithiasis | — | AUROC: 0.67421 [0.66558, 0.68284] | R²: 0.05848 Incremental AUROC (full-covars): 0.04052 PGS R2 (no covariates): 0.02571 PGS AUROC (no covariates): 0.61632 [0.60704, 0.62561] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008759 | PGS001250 (GBE_HC1304) |
PSS004253| African Ancestry| 6,497 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE calculus of kidney and ureter | — | AUROC: 0.63458 [0.56104, 0.70812] | R²: 0.02267 Incremental AUROC (full-covars): -4e-05 PGS R2 (no covariates): 0.00013 PGS AUROC (no covariates): 0.50619 [0.43811, 0.57426] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008760 | PGS001250 (GBE_HC1304) |
PSS004254| East Asian Ancestry| 1,704 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE calculus of kidney and ureter | — | AUROC: 0.66992 [0.57144, 0.7684] | R²: 0.05343 Incremental AUROC (full-covars): 0.02085 PGS R2 (no covariates): 0.01881 PGS AUROC (no covariates): 0.61787 [0.49482, 0.74092] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008761 | PGS001250 (GBE_HC1304) |
PSS004255| European Ancestry| 24,905 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE calculus of kidney and ureter | — | AUROC: 0.6584 [0.63099, 0.68582] | R²: 0.03459 Incremental AUROC (full-covars): 0.00159 PGS R2 (no covariates): 0.00193 PGS AUROC (no covariates): 0.53735 [0.50853, 0.56617] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008762 | PGS001250 (GBE_HC1304) |
PSS004256| South Asian Ancestry| 7,831 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE calculus of kidney and ureter | — | AUROC: 0.66463 [0.62056, 0.7087] | R²: 0.03629 Incremental AUROC (full-covars): 0.01093 PGS R2 (no covariates): 0.0077 PGS AUROC (no covariates): 0.57305 [0.52667, 0.61943] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008763 | PGS001250 (GBE_HC1304) |
PSS004257| European Ancestry| 67,425 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE calculus of kidney and ureter | — | AUROC: 0.66491 [0.64839, 0.68143] | R²: 0.03503 Incremental AUROC (full-covars): 0.01494 PGS R2 (no covariates): 0.00592 PGS AUROC (no covariates): 0.56681 [0.54876, 0.58486] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008858 | PGS001272 (GBE_HC1302) |
PSS004248| African Ancestry| 6,497 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE chronic renal failure | — | AUROC: 0.72548 [0.69772, 0.75323] | R²: 0.09414 Incremental AUROC (full-covars): -0.00175 PGS R2 (no covariates): 8e-05 PGS AUROC (no covariates): 0.49007 [0.45724, 0.52289] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008859 | PGS001272 (GBE_HC1302) |
PSS004249| East Asian Ancestry| 1,704 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE chronic renal failure | — | AUROC: 0.76389 [0.67406, 0.85372] | R²: 0.0985 Incremental AUROC (full-covars): 0.00241 PGS R2 (no covariates): 0.00158 PGS AUROC (no covariates): 0.53553 [0.42884, 0.64222] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008860 | PGS001272 (GBE_HC1302) |
PSS004250| European Ancestry| 24,905 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE chronic renal failure | — | AUROC: 0.73046 [0.71142, 0.74949] | R²: 0.07894 Incremental AUROC (full-covars): 0.00093 PGS R2 (no covariates): 0.00109 PGS AUROC (no covariates): 0.52368 [0.50018, 0.54718] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008861 | PGS001272 (GBE_HC1302) |
PSS004251| South Asian Ancestry| 7,831 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE chronic renal failure | — | AUROC: 0.73226 [0.70793, 0.7566] | R²: 0.10347 Incremental AUROC (full-covars): -0.00037 PGS R2 (no covariates): 0.00031 PGS AUROC (no covariates): 0.51162 [0.48335, 0.5399] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM008862 | PGS001272 (GBE_HC1302) |
PSS004252| European Ancestry| 67,425 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE chronic renal failure | — | AUROC: 0.70402 [0.69403, 0.71401] | R²: 0.06815 Incremental AUROC (full-covars): 0.00281 PGS R2 (no covariates): 0.00203 PGS AUROC (no covariates): 0.53623 [0.52445, 0.548] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM009359 | PGS001807 (portability-PLR_189.2) |
PSS009277| European Ancestry| 19,893 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0197 [0.0058, 0.0336] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009360 | PGS001807 (portability-PLR_189.2) |
PSS009051| European Ancestry| 4,121 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0266 [-0.004, 0.0572] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009361 | PGS001807 (portability-PLR_189.2) |
PSS008605| European Ancestry| 6,645 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0169 [-0.0072, 0.041] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009362 | PGS001807 (portability-PLR_189.2) |
PSS008382| Greater Middle Eastern Ancestry| 1,195 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0347 [-0.0225, 0.0917] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009363 | PGS001807 (portability-PLR_189.2) |
PSS008159| South Asian Ancestry| 6,301 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): -0.0016 [-0.0263, 0.0231] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009365 | PGS001807 (portability-PLR_189.2) |
PSS007728| African Ancestry| 2,471 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): -0.0043 [-0.0439, 0.0353] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009366 | PGS001807 (portability-PLR_189.2) |
PSS008831| African Ancestry| 3,914 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0359 [0.0045, 0.0673] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009364 | PGS001807 (portability-PLR_189.2) |
PSS007946| East Asian Ancestry| 1,803 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0321 [-0.0144, 0.0784] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009777 | PGS001861 (portability-PLR_574) |
PSS009336| European Ancestry| 19,908 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0948 [0.081, 0.1085] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009778 | PGS001861 (portability-PLR_574) |
PSS009110| European Ancestry| 4,121 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0809 [0.0504, 0.1112] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009779 | PGS001861 (portability-PLR_574) |
PSS008664| European Ancestry| 6,631 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0769 [0.0529, 0.1008] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009780 | PGS001861 (portability-PLR_574) |
PSS008438| Greater Middle Eastern Ancestry| 1,197 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0684 [0.0113, 0.1251] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009781 | PGS001861 (portability-PLR_574) |
PSS008218| South Asian Ancestry| 6,310 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0422 [0.0175, 0.0668] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009782 | PGS001861 (portability-PLR_574) |
PSS007999| East Asian Ancestry| 1,806 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.041 [-0.0054, 0.0872] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009783 | PGS001861 (portability-PLR_574) |
PSS007783| African Ancestry| 2,477 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0362 [-0.0033, 0.0757] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009784 | PGS001861 (portability-PLR_574) |
PSS008887| African Ancestry| 3,912 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0251 [-0.0063, 0.0565] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009801 | PGS001864 (portability-PLR_594) |
PSS009339| European Ancestry| 19,913 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0323 [0.0184, 0.0462] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009802 | PGS001864 (portability-PLR_594) |
PSS009113| European Ancestry| 4,121 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0291 [-0.0015, 0.0597] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009803 | PGS001864 (portability-PLR_594) |
PSS008667| European Ancestry| 6,632 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0503 [0.0263, 0.0743] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009805 | PGS001864 (portability-PLR_594) |
PSS008221| South Asian Ancestry| 6,306 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.033 [0.0082, 0.0576] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009806 | PGS001864 (portability-PLR_594) |
PSS008002| East Asian Ancestry| 1,803 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0058 [-0.0406, 0.0522] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009807 | PGS001864 (portability-PLR_594) |
PSS007786| African Ancestry| 2,475 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.005 [-0.0345, 0.0446] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009808 | PGS001864 (portability-PLR_594) |
PSS008890| African Ancestry| 3,912 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0052 [-0.0262, 0.0366] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM009804 | PGS001864 (portability-PLR_594) |
PSS008441| Greater Middle Eastern Ancestry| 1,192 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0222 [-0.0352, 0.0793] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011010 | PGS002017 (portability-ldpred2_189.2) |
PSS009277| European Ancestry| 19,893 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0181 [0.0042, 0.032] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011011 | PGS002017 (portability-ldpred2_189.2) |
PSS009051| European Ancestry| 4,121 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0333 [0.0026, 0.0638] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011012 | PGS002017 (portability-ldpred2_189.2) |
PSS008605| European Ancestry| 6,645 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0144 [-0.0097, 0.0385] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011013 | PGS002017 (portability-ldpred2_189.2) |
PSS008382| Greater Middle Eastern Ancestry| 1,195 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0296 [-0.0276, 0.0867] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011014 | PGS002017 (portability-ldpred2_189.2) |
PSS008159| South Asian Ancestry| 6,301 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0047 [-0.02, 0.0294] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011015 | PGS002017 (portability-ldpred2_189.2) |
PSS007946| East Asian Ancestry| 1,803 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0257 [-0.0208, 0.072] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011017 | PGS002017 (portability-ldpred2_189.2) |
PSS008831| African Ancestry| 3,914 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): 0.0257 [-0.0057, 0.0571] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011016 | PGS002017 (portability-ldpred2_189.2) |
PSS007728| African Ancestry| 2,471 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cancer of bladder | — | — | Partial Correlation (partial-r): -0.0071 [-0.0467, 0.0325] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011437 | PGS002072 (portability-ldpred2_574) |
PSS009336| European Ancestry| 19,908 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.098 [0.0842, 0.1117] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011439 | PGS002072 (portability-ldpred2_574) |
PSS008664| European Ancestry| 6,631 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0805 [0.0565, 0.1044] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011440 | PGS002072 (portability-ldpred2_574) |
PSS008438| Greater Middle Eastern Ancestry| 1,197 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0663 [0.0092, 0.123] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011441 | PGS002072 (portability-ldpred2_574) |
PSS008218| South Asian Ancestry| 6,310 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0503 [0.0256, 0.0749] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011442 | PGS002072 (portability-ldpred2_574) |
PSS007999| East Asian Ancestry| 1,806 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0441 [-0.0023, 0.0903] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011443 | PGS002072 (portability-ldpred2_574) |
PSS007783| African Ancestry| 2,477 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0336 [-0.0059, 0.0731] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011444 | PGS002072 (portability-ldpred2_574) |
PSS008887| African Ancestry| 3,912 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.033 [0.0016, 0.0643] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011438 | PGS002072 (portability-ldpred2_574) |
PSS009110| European Ancestry| 4,121 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cholelithiasis and cholecystitis | — | — | Partial Correlation (partial-r): 0.0792 [0.0487, 0.1096] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011461 | PGS002075 (portability-ldpred2_594) |
PSS009339| European Ancestry| 19,913 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0385 [0.0246, 0.0524] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011462 | PGS002075 (portability-ldpred2_594) |
PSS009113| European Ancestry| 4,121 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0419 [0.0113, 0.0724] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011463 | PGS002075 (portability-ldpred2_594) |
PSS008667| European Ancestry| 6,632 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0543 [0.0303, 0.0783] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011464 | PGS002075 (portability-ldpred2_594) |
PSS008441| Greater Middle Eastern Ancestry| 1,192 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0156 [-0.0417, 0.0728] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011465 | PGS002075 (portability-ldpred2_594) |
PSS008221| South Asian Ancestry| 6,306 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0401 [0.0154, 0.0648] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011466 | PGS002075 (portability-ldpred2_594) |
PSS008002| East Asian Ancestry| 1,803 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0058 [-0.0406, 0.0522] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011468 | PGS002075 (portability-ldpred2_594) |
PSS008890| African Ancestry| 3,912 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0125 [-0.0189, 0.0439] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM011467 | PGS002075 (portability-ldpred2_594) |
PSS007786| African Ancestry| 2,475 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Urinary calculus | — | — | Partial Correlation (partial-r): 0.0047 [-0.0349, 0.0442] | sex, age, birth date, deprivation index, 16 PCs | — |
PPM012722 | PGS002237 (GPS_CKD) |
PSS009508| European Ancestry| 141,247 individuals |
PGP000269 | Khan A et al. Nat Med (2022) |
Reported Trait: Chronic Kidney Disease (stage 3 or greater) | OR: 1.49 [1.47, 1.5] | AUROC: 0.75 | — | Age, Sex, Diabetes and 4 PCs | — |
PPM012723 | PGS002237 (GPS_CKD) |
PSS009506| African Ancestry| 14,544 individuals |
PGP000269 | Khan A et al. Nat Med (2022) |
Reported Trait: Chronic Kidney Disease (stage 3 or greater) | OR: 1.32 | AUROC: 0.78 | — | Age, Sex, Diabetes and 4 PCs | — |
PPM012724 | PGS002237 (GPS_CKD) |
PSS009509| Hispanic or Latin American Ancestry| 4,264 individuals |
PGP000269 | Khan A et al. Nat Med (2022) |
Reported Trait: Chronic Kidney Disease (stage 3 or greater) | OR: 1.42 [1.29, 1.57] | AUROC: 0.88 | — | Age, Sex, Diabetes and 4 PCs | — |
PPM012725 | PGS002237 (GPS_CKD) |
PSS009507| Additional Asian Ancestries| 10,087 individuals |
PGP000269 | Khan A et al. Nat Med (2022) |
Reported Trait: Chronic Kidney Disease (stage 3 or greater) | OR: 1.56 [1.43, 1.69] | AUROC: 0.79 | — | Age, Sex, Diabetes and 4 PCs | — |
PPM018706 | PGS002237 (GPS_CKD) |
PSS011075| European Ancestry| 11,813 individuals |
PGP000495 | Bakshi A et al. Kidney Int (2023) |Ext. |
Reported Trait: Chronic kidney disease (eGFR <60 ml/min per 1.73 m2 or UACR >3.0 mg/mmol) | OR: 1.24 [1.19, 1.3] | AUROC: 0.68 [0.67, 0.69] | — | age, sex, alcohol, smoking, hypertension, diabetes, body mass index, nonsteroidal anti-inflammatory drug and angiotensin-converting enzyme inhibitor/angiotensin receptor blocker use, and visit year | — |
PPM018707 | PGS002237 (GPS_CKD) |
PSS011075| European Ancestry| 11,813 individuals |
PGP000495 | Bakshi A et al. Kidney Int (2023) |Ext. |
Reported Trait: Chronic kidney disease (eGFR <60 ml/min per 1.73 m2) | OR: 1.51 [1.43, 1.59] | AUROC: 0.71 [0.7, 0.73] | — | age, sex, alcohol, smoking, hypertension, diabetes, body mass index, nonsteroidal anti-inflammatory drug and angiotensin-converting enzyme inhibitor/angiotensin receptor blocker use, and visit year | — |
PPM018708 | PGS002237 (GPS_CKD) |
PSS011075| European Ancestry| 11,813 individuals |
PGP000495 | Bakshi A et al. Kidney Int (2023) |Ext. |
Reported Trait: Chronic kidney disease (eGFR <45 ml/min per 1.73 m2) | OR: 1.47 [1.32, 1.65] | AUROC: 0.78 [0.75, 0.8] | — | age, sex, alcohol, smoking, hypertension, diabetes, body mass index, nonsteroidal anti-inflammatory drug and angiotensin-converting enzyme inhibitor/angiotensin receptor blocker use, and visit year | — |
PPM020420 | PGS002237 (GPS_CKD) |
PSS011354| Multi-ancestry (including European)| 1,144 individuals |
PGP000552 | Mantovani A et al. Aliment Pharmacol Ther (2023) |Ext. |
Reported Trait: Estimated glomerular filtration rate | β: -10.0 (1.32) | — | — | sex, age, height, waist circumference, systolic blood pressure, ALT aminotransferase, Fasting insulin, albuminuria, LDL-cholesterol, lipid-lowering treatment, ethnicity, PNPLA3 rs738409 p.I148M | — |
PPM020421 | PGS002237 (GPS_CKD) |
PSS011355| Multi-ancestry (including European)| 144 individuals |
PGP000552 | Mantovani A et al. Aliment Pharmacol Ther (2023) |Ext. |
Reported Trait: Estimated glomerular filtration rate | β: -8.1 (4.23) | — | — | sex, height, systolic blood pressure, LDL-cholesterol, ALT aminotransferase, albuminuria, PNPLA3 rs738409 p.I148M | — |
PPM014957 | PGS002757 (eGFR_prscs) |
PSS009939| European Ancestry| 39,444 individuals |
PGP000364 | Mars N et al. Am J Hum Genet (2022) |
Reported Trait: Chronic kidney disease | OR: 1.15 [1.05, 1.26] | — | — | age, sex, 10 PCs, technical covariates | — |
PPM016166 | PGS003335 (GRS18_BC) |
PSS010054| European Ancestry| 10,576 individuals |
PGP000404 | Teleka S et al. Sci Rep (2022) |
Reported Trait: Urothelial carcinoma | HR: 1.27 [1.15, 1.4] | — | — | Smoking, BMI, education, and physical activity | — |
PPM016167 | PGS003335 (GRS18_BC) |
PSS010054| European Ancestry| 10,576 individuals |
PGP000404 | Teleka S et al. Sci Rep (2022) |
Reported Trait: Non-aggressive urothelial carcinoma | HR: 1.34 [1.18, 1.52] | — | — | Smoking, BMI, education, and physical activity | — |
PPM016168 | PGS003335 (GRS18_BC) |
PSS010054| European Ancestry| 10,576 individuals |
PGP000404 | Teleka S et al. Sci Rep (2022) |
Reported Trait: Aggressive urothelial carcinoma | HR: 1.19 [1.0, 1.42] | — | — | Smoking, BMI, education, and physical activity | — |
PPM016169 | PGS003335 (GRS18_BC) |
PSS010054| European Ancestry| 10,576 individuals |
PGP000404 | Teleka S et al. Sci Rep (2022) |
Reported Trait: Urothelial carcinoma x systolic blood pressure interaction | HR: 1.55 [1.14, 2.1] | — | — | Smoking, BMI, physical activity and level of education | — |
PPM016170 | PGS003335 (GRS18_BC) |
PSS010054| European Ancestry| 10,576 individuals |
PGP000404 | Teleka S et al. Sci Rep (2022) |
Reported Trait: Non-aggressive urothelial carcinoma x systolic blood pressure interaction | HR: 1.59 [1.07, 2.35] | — | — | Smoking, BMI, physical activity and level of education | — |
PPM016171 | PGS003335 (GRS18_BC) |
PSS010054| European Ancestry| 10,576 individuals |
PGP000404 | Teleka S et al. Sci Rep (2022) |
Reported Trait: Aggressive urothelial carcinoma x systolic blood pressure interaction | HR: 1.72 [1.03, 2.87] | — | — | Smoking, BMI, physical activity and level of education | — |
PPM016172 | PGS003335 (GRS18_BC) |
PSS010054| European Ancestry| 10,576 individuals |
PGP000404 | Teleka S et al. Sci Rep (2022) |
Reported Trait: Urothelial carcinoma x diastolic blood pressure interaction | HR: 1.45 [1.09, 1.92] | — | — | Smoking, BMI, physical activity and level of education | — |
PPM016173 | PGS003335 (GRS18_BC) |
PSS010054| European Ancestry| 10,576 individuals |
PGP000404 | Teleka S et al. Sci Rep (2022) |
Reported Trait: Non-aggressive urothelial carcinoma x diastolic blood pressure interaction | HR: 1.54 [1.07, 2.22] | — | — | Smoking, BMI, physical activity and level of education | — |
PPM016174 | PGS003335 (GRS18_BC) |
PSS010054| European Ancestry| 10,576 individuals |
PGP000404 | Teleka S et al. Sci Rep (2022) |
Reported Trait: Aggressive urothelial carcinoma x diastolic blood pressure interaction | HR: 1.38 [0.82, 2.31] | — | — | Smoking, BMI, physical activity and level of education | — |
PPM016206 | PGS003354 (SSNS-GRS) |
PSS010057| European Ancestry| 597 individuals |
PGP000407 | Downie ML et al. Pediatr Nephrol (2022) |
Reported Trait: Non-monogenic idiopathic nephrotic syndrome | — | AUROC: 0.638 [0.543, 0.733] | — | — | — |
PPM018492 | PGS003736 (PRS13_BlC) |
PSS010986| European Ancestry| 327 individuals |
PGP000470 | Xin J et al. EBioMedicine (2023) |
Reported Trait: Bladder cancer | OR: 1.14 [1.01, 1.29] | — | — | — | — |
PPM018500 | PGS003744 (PRS14_RC) |
PSS010994| European Ancestry| 692 individuals |
PGP000470 | Xin J et al. EBioMedicine (2023) |
Reported Trait: Renal cancer | OR: 1.24 [1.14, 1.35] | — | — | — | — |
PPM018525 | PGS003755 (wGRS_SLE) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Class III/IV lupus nephritis in anti-sm positive systemic lupus erythematosus | — | AUROC: 0.582 [0.496, 0.668] | — | — | — |
PPM018519 | PGS003755 (wGRS_SLE) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Childhood-onset systemic lupus erythematosus (onset at age <16 years) | — | — | p: 6.80e-08 | — | — |
PPM018520 | PGS003755 (wGRS_SLE) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Number of American College of Rheumatology (ACR) criteria for systemic lupus erythematosus | β: 0.143 [0.078, 0.208] | — | — | Onset age, sex, disease duration, and top 4 principal components | — |
PPM018523 | PGS003755 (wGRS_SLE) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Renal disorder | β: 1.22 [1.12, 1.33] | — | — | Onset age, sex, disease duration, and top 4 principal components | — |
PPM018524 | PGS003755 (wGRS_SLE) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Production of anti-Sm antibody | β: 1.23 [1.11, 1.36] | — | — | Onset age, sex, disease duration, and top 4 principal components | — |
PPM018526 | PGS003755 (wGRS_SLE) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Class V lupus nephritis in anti-sm positive systemic lupus erythematosus | — | AUROC: 0.681 [0.602, 0.76] | — | — | — |
PPM018521 | PGS003756 (wGRS_SLE_non-HLA) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Number of American College of Rheumatology (ACR) criteria for systemic lupus erythematosus | β: 0.133 [0.071, 0.194] | — | — | Onset age, sex, disease duration, and top 4 principal components | — |
PPM018522 | PGS003757 (wGRS_SLE_HLA) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Number of American College of Rheumatology (ACR) criteria for systemic lupus erythematosus | β: 0.213 [0.079, 0.347] | — | — | Onset age, sex, disease duration, and top 4 principal components | — |
PPM019115 | PGS003960 (GRS57_SLE) |
PSS011186| Multi-ancestry (including European)| 3,048 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.65 [0.63, 0.67] | — | — | — |
PPM019116 | PGS003960 (GRS57_SLE) |
PSS011188| European Ancestry| 1,994 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.63 [0.6, 0.66] | — | — | — |
PPM019117 | PGS003960 (GRS57_SLE) |
PSS011187| African Ancestry| 902 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.5 [0.44, 0.56] | — | — | — |
PPM019118 | PGS003960 (GRS57_SLE) |
PSS011186| Multi-ancestry (including European)| 3,048 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.89 [0.87, 0.9] | — | phenotype risk score | — |
PPM019119 | PGS003960 (GRS57_SLE) |
PSS011188| European Ancestry| 1,994 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.87 [0.85, 0.89] | — | phenotype risk score | — |
PPM019120 | PGS003960 (GRS57_SLE) |
PSS011187| African Ancestry| 902 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.89 [0.86, 0.93] | — | phenotype risk score | — |
PPM019725 | PGS003988 (dbslmm.auto.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.23024 β: 0.20721 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019726 | PGS003988 (dbslmm.auto.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.19381 β: 0.17715 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019728 | PGS003988 (dbslmm.auto.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.13529 β: 0.12688 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019730 | PGS003988 (dbslmm.auto.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.17463 β: 0.16095 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019732 | PGS003988 (dbslmm.auto.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.21118 β: 0.19159 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019734 | PGS003988 (dbslmm.auto.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.32812 β: 0.28376 |
AUROC: 0.58 | — | 0 | beta = log(or)/sd_pgs |
PPM019791 | PGS004004 (lassosum.auto.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.21322 β: 0.19327 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019792 | PGS004004 (lassosum.auto.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.1667 β: 0.15418 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019794 | PGS004004 (lassosum.auto.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.14563 β: 0.13596 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019796 | PGS004004 (lassosum.auto.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.17435 β: 0.16072 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019798 | PGS004004 (lassosum.auto.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.17987 β: 0.1654 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019800 | PGS004004 (lassosum.auto.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.32743 β: 0.28325 |
AUROC: 0.58 | — | 0 | beta = log(or)/sd_pgs |
PPM019801 | PGS004016 (lassosum.CV.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.23332 β: 0.20971 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019802 | PGS004016 (lassosum.CV.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.19566 β: 0.1787 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019804 | PGS004016 (lassosum.CV.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.14431 β: 0.1348 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019806 | PGS004016 (lassosum.CV.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.18937 β: 0.17342 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019808 | PGS004016 (lassosum.CV.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.23734 β: 0.21296 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019810 | PGS004016 (lassosum.CV.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.3499 β: 0.30003 |
AUROC: 0.58 | — | 0 | beta = log(or)/sd_pgs |
PPM019745 | PGS004030 (ldpred2.auto.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.23112 β: 0.20793 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019746 | PGS004030 (ldpred2.auto.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.19337 β: 0.17678 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019748 | PGS004030 (ldpred2.auto.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.1534 β: 0.14271 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019750 | PGS004030 (ldpred2.auto.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.17966 β: 0.16522 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019752 | PGS004030 (ldpred2.auto.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.26323 β: 0.23368 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019754 | PGS004030 (ldpred2.auto.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.37576 β: 0.31901 |
AUROC: 0.59 | — | 0 | beta = log(or)/sd_pgs |
PPM019685 | PGS004045 (ldpred2.CV.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.242 β: 0.21672 |
AUROC: 0.56 | — | 0 | beta = sd_trait/sd_pgs = pearson correlation |
PPM019686 | PGS004045 (ldpred2.CV.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.19906 β: 0.18153 |
AUROC: 0.55 | — | 0 | beta = sd_trait/sd_pgs = pearson correlation |
PPM019688 | PGS004045 (ldpred2.CV.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.1551 β: 0.14419 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019690 | PGS004045 (ldpred2.CV.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.18451 β: 0.16933 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019692 | PGS004045 (ldpred2.CV.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.27638 β: 0.24403 |
AUROC: 0.57 | — | 0 | beta = log(or)/sd_pgs |
PPM019694 | PGS004045 (ldpred2.CV.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.37553 β: 0.31884 |
AUROC: 0.59 | — | 0 | beta = log(or)/sd_pgs |
PPM019755 | PGS004058 (megaprs.auto.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.23792 β: 0.21343 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019756 | PGS004058 (megaprs.auto.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.20337 β: 0.18513 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019758 | PGS004058 (megaprs.auto.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.15047 β: 0.14017 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019760 | PGS004058 (megaprs.auto.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.18412 β: 0.169 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019762 | PGS004058 (megaprs.auto.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.28993 β: 0.25459 |
AUROC: 0.57 | — | 0 | beta = log(or)/sd_pgs |
PPM019764 | PGS004058 (megaprs.auto.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.36871 β: 0.31387 |
AUROC: 0.59 | — | 0 | beta = log(or)/sd_pgs |
PPM019765 | PGS004074 (megaprs.CV.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.23578 β: 0.2117 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019766 | PGS004074 (megaprs.CV.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.20198 β: 0.18397 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019768 | PGS004074 (megaprs.CV.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.14888 β: 0.13879 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019770 | PGS004074 (megaprs.CV.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.18135 β: 0.16666 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019772 | PGS004074 (megaprs.CV.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.27181 β: 0.24044 |
AUROC: 0.57 | — | 0 | beta = log(or)/sd_pgs |
PPM019774 | PGS004074 (megaprs.CV.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.37315 β: 0.31711 |
AUROC: 0.59 | — | 0 | beta = log(or)/sd_pgs |
PPM019781 | PGS004088 (prscs.auto.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.22843 β: 0.20574 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019782 | PGS004088 (prscs.auto.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.1913 β: 0.17504 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019784 | PGS004088 (prscs.auto.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.13127 β: 0.12334 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019786 | PGS004088 (prscs.auto.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.18048 β: 0.16592 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019788 | PGS004088 (prscs.auto.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.24645 β: 0.2203 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019790 | PGS004088 (prscs.auto.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.34394 β: 0.2956 |
AUROC: 0.58 | — | 0 | beta = log(or)/sd_pgs |
PPM019775 | PGS004101 (prscs.CV.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.22532 β: 0.2032 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019776 | PGS004101 (prscs.CV.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.18489 β: 0.16965 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019777 | PGS004101 (prscs.CV.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.14104 β: 0.13194 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019778 | PGS004101 (prscs.CV.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.17256 β: 0.15919 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019780 | PGS004101 (prscs.CV.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.33357 β: 0.28786 |
AUROC: 0.58 | — | 0 | beta = log(or)/sd_pgs |
PPM019779 | PGS004101 (prscs.CV.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.26007 β: 0.23117 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019695 | PGS004112 (pt_clump.auto.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.11711 β: 0.11075 |
AUROC: 0.53 | — | 0 | beta = log(or)/sd_pgs |
PPM019696 | PGS004112 (pt_clump.auto.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.08316 β: 0.07988 |
AUROC: 0.52 | — | 0 | beta = log(or)/sd_pgs |
PPM019698 | PGS004112 (pt_clump.auto.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.09504 β: 0.09079 |
AUROC: 0.52 | — | 0 | beta = log(or)/sd_pgs |
PPM019700 | PGS004112 (pt_clump.auto.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.10467 β: 0.09955 |
AUROC: 0.53 | — | 0 | beta = log(or)/sd_pgs |
PPM019702 | PGS004112 (pt_clump.auto.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.07811 β: 0.07521 |
AUROC: 0.52 | — | 0 | beta = log(or)/sd_pgs |
PPM019704 | PGS004112 (pt_clump.auto.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.18494 β: 0.16969 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019705 | PGS004128 (pt_clump_nested.CV.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.2025 β: 0.1844 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019706 | PGS004128 (pt_clump_nested.CV.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.17535 β: 0.16157 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019708 | PGS004128 (pt_clump_nested.CV.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.12482 β: 0.11762 |
AUROC: 0.53 | — | 0 | beta = log(or)/sd_pgs |
PPM019710 | PGS004128 (pt_clump_nested.CV.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.14728 β: 0.1374 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019712 | PGS004128 (pt_clump_nested.CV.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.1553 β: 0.14436 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019714 | PGS004128 (pt_clump_nested.CV.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.28244 β: 0.24876 |
AUROC: 0.57 | — | 0 | beta = log(or)/sd_pgs |
PPM019735 | PGS004142 (sbayesr.auto.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.23421 β: 0.21043 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019736 | PGS004142 (sbayesr.auto.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.18832 β: 0.17254 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019738 | PGS004142 (sbayesr.auto.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.14325 β: 0.13388 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019740 | PGS004142 (sbayesr.auto.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.17317 β: 0.15971 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019742 | PGS004142 (sbayesr.auto.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.23784 β: 0.21337 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019744 | PGS004142 (sbayesr.auto.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.36398 β: 0.3104 |
AUROC: 0.59 | — | 0 | beta = log(or)/sd_pgs |
PPM019715 | PGS004158 (UKBB_EnsPGS.GCST008059.CKD) |
PSS011216| European Ancestry| 199,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.24774 β: 0.22134 |
AUROC: 0.56 | — | 0 | beta = log(or)/sd_pgs |
PPM019716 | PGS004158 (UKBB_EnsPGS.GCST008059.CKD) |
PSS011228| European Ancestry| 383,843 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.20836 β: 0.18926 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019717 | PGS004158 (UKBB_EnsPGS.GCST008059.CKD) |
PSS011239| South Asian Ancestry| 44,057 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.15782 β: 0.14654 |
AUROC: 0.54 | — | 0 | beta = log(or)/sd_pgs |
PPM019718 | PGS004158 (UKBB_EnsPGS.GCST008059.CKD) |
PSS011255| European Ancestry| 66,865 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.19045 β: 0.17433 |
AUROC: 0.55 | — | 0 | beta = log(or)/sd_pgs |
PPM019719 | PGS004158 (UKBB_EnsPGS.GCST008059.CKD) |
PSS011283| South Asian Ancestry| 9,326 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.28519 β: 0.25091 |
AUROC: 0.57 | — | 0 | beta = log(or)/sd_pgs |
PPM019720 | PGS004158 (UKBB_EnsPGS.GCST008059.CKD) |
PSS011269| European Ancestry| 90,274 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Chronic kidney disease or dialysis | OR: 1.38925 β: 0.32876 |
AUROC: 0.59 | — | 0 | beta = log(or)/sd_pgs |
PPM020162 | PGS004224 (GRS241_CKD) |
PSS011300| Multi-ancestry (including European)| 214,244 individuals |
PGP000524 | Lan R et al. Tob Induc Dis (2023) |
Reported Trait: Incident CKD with second hand smoke exposure | — | — | Hazard ratio (HR, second hand smoke exposure and high PRS vs. no exposure and low PRS): 1.34 [1.21, 1.48] | Age, sex, race, physical activity, Townsend deprivation index, alcohol consumption, total triglyceride, body mass index, hypertension, and diabetes mellitus | — |
PPM020298 | PGS004241 (PRS12_bladder) |
PSS011328| European Ancestry| 133,830 individuals |
PGP000542 | Kim ES et al. NPJ Precis Oncol (2023) |
Reported Trait: Bladder cancer | HR: 1.41 [1.09, 1.83] | — | — | first 10 genetic principal components | — |
PPM020308 | PGS004241 (PRS12_bladder) |
PSS011329| European Ancestry| 115,207 individuals |
PGP000542 | Kim ES et al. NPJ Precis Oncol (2023) |
Reported Trait: Bladder cancer | HR: 1.28 [1.12, 1.48] | — | — | first 10 genetic principal components | — |
PPM020302 | PGS004245 (PRS12_kidney) |
PSS011328| European Ancestry| 133,830 individuals |
PGP000542 | Kim ES et al. NPJ Precis Oncol (2023) |
Reported Trait: Kidney cancer | HR: 1.22 [1.02, 1.45] | — | — | first 10 genetic principal components | — |
PPM020310 | PGS004245 (PRS12_kidney) |
PSS011329| European Ancestry| 115,207 individuals |
PGP000542 | Kim ES et al. NPJ Precis Oncol (2023) |
Reported Trait: Kidney cancer | HR: 1.25 [1.1, 1.41] | — | — | first 10 genetic principal components | — |
PPM020591 | PGS004476 (disease.K80.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: K80 (Cholelithiasis) | OR: 1.21943 | — | — | — | — |
PPM020606 | PGS004491 (disease.N17.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: N17 (Acute renal failure) | OR: 1.08493 | — | — | — | — |
PPM020607 | PGS004492 (disease.N18.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: N18 (Chronic renal failure) | OR: 1.17083 | — | — | — | — |
PPM020608 | PGS004493 (disease.N20.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: N20 (Calculus of kidney and ureter) | OR: 1.22731 | — | — | — | — |
PPM020609 | PGS004494 (disease.N39.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: N39 (Other disorders of urinary system) | OR: 1.06837 | — | — | — | — |
PPM020661 | PGS004546 (meta.K80.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: K80 (Cholelithiasis) | OR: 1.29862 | — | — | — | — |
PPM020676 | PGS004561 (meta.N17.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: N17 (Acute renal failure) | OR: 1.15324 | — | — | — | — |
PPM020677 | PGS004562 (meta.N18.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: N18 (Chronic renal failure) | OR: 1.39548 | — | — | — | — |
PPM020678 | PGS004563 (meta.N20.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: N20 (Calculus of kidney and ureter) | OR: 1.28304 | — | — | — | — |
PPM020679 | PGS004564 (meta.N39.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: N39 (Other disorders of urinary system) | OR: 1.10719 | — | — | — | — |
PPM020872 | PGS004687 (bladder_cancer) |
PSS011431| European Ancestry| 40,771 individuals |
PGP000596 | Hu J et al. JNCI Cancer Spectr (2024) |
Reported Trait: Bladder cancer | — | AUROC: 0.5582 | — | — | — |
PPM020875 | PGS004690 (kidney_cancer) |
PSS011434| European Ancestry| 40,841 individuals |
PGP000596 | Hu J et al. JNCI Cancer Spectr (2024) |
Reported Trait: Kidney cancer | — | AUROC: 0.5644 | — | — | — |
PPM021269 | PGS004889 (CKD_gePGS) |
PSS011670| Multi-ancestry (including European)| 11,645 individuals |
PGP000619 | Mandla R et al. Genome Med (2024) |
Reported Trait: Incident chronic kidney disease cases with diabetes | HR: 1.33 [1.18, 1.5] | C-index: 0.727 | — | first 10 ancestry PCs, age, sex, diagnosis history, systolic blood pressure, diastolic blood pressure, weight and HTN diagnosis combined ino a clinical risk score | — |
PPM021267 | PGS004889 (CKD_gePGS) |
PSS011670| Multi-ancestry (including European)| 11,645 individuals |
PGP000619 | Mandla R et al. Genome Med (2024) |
Reported Trait: Incident chronic kidney disease cases without diabetes | HR: 1.3 [1.18, 1.44] | C-index: 0.78 | — | first 10 ancestry PCs, age, sex, diagnosis history, systolic blood pressure, diastolic blood pressure, weight and HTN diagnosis combined into a clinical risk score | — |
PPM021361 | PGS004908 (PRS107_KC) |
PSS011702| European Ancestry| 324,805 individuals |
PGP000640 | Purdue MP et al. Nat Genet (2024) |
Reported Trait: Kidney cancer | OR: 1.5 [1.43, 1.58] | AUROC: 0.74 [0.72, 0.75] | — | Age, sex, PCs, BMI, smoking, hypertension | — |
PPM021362 | PGS004908 (PRS107_KC) |
PSS011702| European Ancestry| 324,805 individuals |
PGP000640 | Purdue MP et al. Nat Genet (2024) |
Reported Trait: Clear cell renal cell carcinoma | OR: 1.69 [1.57, 1.81] | AUROC: 0.74 [0.72, 0.76] | — | Age, sex, PCs, BMI, smoking, hypertension | — |
PPM021383 | PGS004917 (wGRS) |
PSS011718| Multi-ancestry (including European)| 3,945 individuals |
PGP000648 | Cui J et al. Arthritis Rheumatol (2020) |
Reported Trait: Systemic lupus erythematosus | OR: 2.01 [1.83, 2.22] β: 0.7 (0.05) |
AUROC: 0.696 | — | — | — |
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
---|---|---|---|---|---|---|---|---|
PSS000682 | ICD-10 E1[0-4]2 | — | [
|
— | European (Finnish) |
— | FinnGen | — |
PSS000683 | ICD-10 E1[0-4]2 | — | [
|
— | European (Finnish) |
— | FinnGen | — |
PSS008664 | — | — | 6,631 individuals | — | European | Italy (South Europe) | UKB | — |
PSS011431 | — | — | [
|
— | European | — | UKB | — |
PSS008667 | — | — | 6,632 individuals | — | European | Italy (South Europe) | UKB | — |
PSS011434 | — | — | [
|
— | European | — | UKB | — |
PSS008159 | — | — | 6,301 individuals | — | South Asian | India (South Asia) | UKB | — |
PSS011702 | — | — | [
|
— | European | — | UKB | — |
PSS011216 | — | — | [
|
— | European | — | EB | — |
PSS011718 | Those indicating having received a new systemic lupus erythematosus diagnosis were asked to complete the Connective Tissue Disease Screening Question- naire (12) and to consent to the release of their medical records. Released medical records of all nurses who indicated experi- encing systemic lupus erythematosus symptoms on this questionnaire were independently reviewed by 3 board-certified rheumatologists (EWK, JAS, and KHC). Cases of systemic lupus erythematosus were identified based on the presence of at least 4 criteria from the American College of Rheumatology (ACR) 1997 updated criteria for the classification of SLE and also based on reviewers' consensus. | — | [ ,
0.0 % Male samples |
— | European, Not reported | European (98%) | NHS, NHS2 | — |
PSS011718 | All patients diagnosed as having systemic lupus erythematosus in the PHB and included in this study met at least 4 of the 11 ACR 1997 updated classification criteria for systemic lupus erythematosus . Cases were identified as those individuals previously included in the Brigham and Women's Hospital Lupus Registry or those with ≥3 Interna- tional Classification of Diseases, Ninth Revision (ICD-9)/ICD-10 codes for systemic lupus erythematosus , each noted ≥30 days apart, followed by medical record review to identify the presence of any of the ACR 1997 criteria for systemic lupus erythematosus. | — | [ ,
9.7 % Male samples |
— | European, Asian unspecified, African unspecified, Not reported | European (68.1%), Asian (4.9%), African (14.2%), Not reported (12.8%) | PHB | — |
PSS000993 | All individuals had systemic lupus erythematosus. Cases are individuals that also have renal disease | — | [
|
— | European | — | NR | — |
PSS000994 | All individuals had systemic lupus erythematosus. Cases are individuals that also have renal disease | — | [
|
— | European | — | NR | Cases and controls obtained by SLEGEN. |
PSS011228 | N14_CHRONKIDNEYDIS, ICD10: N18, ICD9: 585, include dialysis (ICD10 Z992|Y841) | — | [
|
— | European | — | FinnGen | — |
PSS008218 | — | — | 6,310 individuals | — | South Asian | India (South Asia) | UKB | — |
PSS011075 | — | — | 11,813 individuals, 45.8 % Male samples |
Mean = 75.0 years Sd = 4.2 years |
European | — | ASPREE | — |
PSS008221 | — | — | 6,306 individuals | — | South Asian | India (South Asia) | UKB | — |
PSS004248 | — | — | [
|
— | African unspecified | — | UKB | — |
PSS004249 | — | — | [
|
— | East Asian | — | UKB | — |
PSS004250 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
PSS004251 | — | — | [
|
— | South Asian | — | UKB | — |
PSS004252 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
PSS004253 | — | — | [
|
— | African unspecified | — | UKB | — |
PSS004254 | — | — | [
|
— | East Asian | — | UKB | — |
PSS004255 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
PSS000436 | The discovery cohort included 1001 patients from the University clinics in Uppsala, Linköping, Karolinska Institute (Stockholm), Lund, and from the four northern-most counties in Sweden. All subjects fulfilled ≥4 ACR-82 classification criteria for SLE and were of European descent.30 Clinical data were collected from the patients’ medical files, including SDI scores, the ACR-82 classification criteria, clinical antiphospholipid syndrome (APS) diagnosis, glomerular filtration rate, chronic kidney disease (CKD) stages, ESRD, renal biopsy data and CVE, defined as myocardial infarction, ischaemic cerebrovascular disease or venous thromboembolism (VTE). Control individuals were healthy blood donors from Uppsala (Uppsala Bioresource) and Lund or population based controls from Stockholm and the four northernmost counties of Sweden. | — | [
|
— | European | — | Karolinska, UHU | The discovery cohort included 1001 patients from the University clinics in Uppsala, Linköping, Karolinska Institute (Stockholm), Lund, and from the four northern-most counties in Sweden |
PSS000437 | The discovery cohort included 1001 patients from the University clinics in Uppsala, Linköping, Karolinska Institute (Stockholm), Lund, and from the four northern-most counties in Sweden. All subjects fulfilled ≥4 ACR-82 classification criteria for SLE and were of European descent.30 Clinical data were collected from the patients’ medical files, including SDI scores, the ACR-82 classification criteria, clinical antiphospholipid syndrome (APS) diagnosis, glomerular filtration rate, chronic kidney disease (CKD) stages, ESRD, renal biopsy data and CVE, defined as myocardial infarction, ischaemic cerebrovascular disease or venous thromboembolism (VTE). | — | [
|
— | European | — | Karolinska, UHU | The discovery cohort included 1001 patients from the University clinics in Uppsala, Linköping, Karolinska Institute (Stockholm), Lund, and from the four northern-most counties in Sweden |
PSS000438 | — | — | [
|
— | European | — | NR | The replication cohort is described in Langefeld et al. (PMID:28714469) |
PSS004256 | — | — | [
|
— | South Asian | — | UKB | — |
PSS004257 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
PSS011239 | — | — | [
|
— | South Asian | — | G&H | — |
PSS007728 | — | — | 2,471 individuals | — | African American or Afro-Caribbean | Carribean | UKB | — |
PSS011255 | — | — | [
|
— | European | — | HUNT | — |
PSS009277 | — | — | 19,893 individuals | — | European | UK (+ Ireland) | UKB | — |
PSS000804 | ICD-10 Z992|Y841 | — | [
|
— | European (Finnish) |
— | FinnGen | — |
PSS011269 | — | — | [
|
— | European | — | UKB | — |
PSS011283 | — | — | [
|
— | South Asian | — | UKB | — |
PSS010054 | — | — | [ ,
100.0 % Male samples |
Mean = 59.0 years | European | — | MDC | — |
PSS000823 | — | — | 87,413 individuals | — | European | — | UKB | — |
PSS010057 | — | — | 597 individuals | — | European | — | NR | BRIDGE |
PSS000829 | ICD-10 N17 | — | [
|
— | European (Finnish) |
— | FinnGen | — |
PSS007783 | — | — | 2,477 individuals | — | African American or Afro-Caribbean | Carribean | UKB | — |
PSS007786 | — | — | 2,475 individuals | — | African American or Afro-Caribbean | Carribean | UKB | — |
PSS000318 | Setting II: Based on ICD codes and review of medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases | Median = 8.0 years | [ ,
32.0 % Male samples |
— | European | — | PHB | — |
PSS000319 | Setting III: Based on ICD codes and final diagnosis in medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases | Median = 7.0 years | [ ,
32.0 % Male samples |
— | European | — | PHB | — |
PSS011300 | — | — | 196,354 individuals | — | European | — | UKB | Full combined ancestry cohort: percent males = 57.9% |
PSS011300 | — | — | 17,890 individuals | — | Not reported | — | UKB | Full combined ancestry cohort: percent males = 57.9% |
PSS009336 | — | — | 19,908 individuals | — | European | UK (+ Ireland) | UKB | — |
PSS000324 | Setting I: Based on ICD codes and expert opinion (ACR2010 criteria), in eMERGE network EMR database from Stanaway 2018; controls = other non-matching arthritis diseases | Median = 16.0 years | [ ,
43.0 % Male samples |
— | European, African unspecified, Asian unspecified, NR | Primarily European, African and Asian ancestry | eMERGE | — |
PSS009339 | — | — | 19,913 individuals | — | European | UK (+ Ireland) | UKB | — |
PSS008831 | — | — | 3,914 individuals | — | African unspecified | Nigeria (West Africa) | UKB | — |
PSS000853 | Data and diagnoses on site-specific incident cancers were provided by the National Health Service Information Centre for participants from England and Wales (follow-up through March 31, 2016) and by the NHS Central Register Scotland for participants from Scotland (follow-up through October 31, 2015). Cancers were coded by the International Classification of Diseases, Ninth Revision (ICD-9) or the International Classification of Diseases, Tenth Revision (ICD-10). Bladder cancer =(ICD-9 = 188 or ICD-10 = C67). | Median = 5.8 years | [ ,
46.5 % Male samples |
— | European | — | UKB | — |
PSS000489 | The diagnosttic criteria for each disease was based on gold-standard clinical guidelines. | — | 339 individuals | — | European (Spanish) |
— | PRECISESADS | — |
PSS000856 | Data and diagnoses on site-specific incident cancers were provided by the National Health Service Information Centre for participants from England and Wales (follow-up through March 31, 2016) and by the NHS Central Register Scotland for participants from Scotland (follow-up through October 31, 2015). Cancers were coded by the International Classification of Diseases, Ninth Revision (ICD-9) or the International Classification of Diseases, Tenth Revision (ICD-10). Kidney Cancer=(ICD-9 = 189.0 or ICD-10 = C64) | Median = 5.8 years | [ ,
46.5 % Male samples |
— | European | — | UKB | — |
PSS009939 | — | — | 39,444 individuals | — | European (Finnish) |
— | FinnGen | — |
PSS000870 | Serum creatinine was quantified by Metabolon HD4 metabolomics in mg/dL units, and adjusted for sample measurement batch, sample measurement plate, and days between blood draw and sample processing. Subsequently, eGFR was quantified from serum creatinine using the CKD-EPI equation | — | 3,037 individuals, 51.0 % Male samples |
Median = 44.0 years IQR = [30.5, 54.7] years |
European | — | INTERVAL | — |
PSS001010 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |
PSS008887 | — | — | 3,912 individuals | — | African unspecified | Nigeria (West Africa) | UKB | — |
PSS001015 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |
PSS008890 | — | — | 3,912 individuals | — | African unspecified | Nigeria (West Africa) | UKB | — |
PSS008382 | — | — | 1,195 individuals | — | Greater Middle Eastern (Middle Eastern, North African or Persian) | Iran (Middle East) | UKB | — |
PSS000555 | PheCode:189.2; ICD9CM:188.0, 188.1, 188.2, 188.3, 188.4, 188.5, 188.6, 188.7, 188.8, 188.9, 233.7, 236.7, 239.4, V10.51; ICD10CM:C67, C67.0, C67.1, C67.2, C67.3, C67.4, C67.5, C67.6, C67.7, C67.8, C67.9, D09.0, D41.4, D49.4 | — | [
|
— | European | — | MGI | — |
PSS001027 | Cases were individuals with systemic lupus erythematosus (SLE). All cases were carefully recruited regarding the criteria from the American College of Rheumatology (ACR). Controls included healthy individuals and individuals who had unrelated diseases including: breast cancer, periodontitis, tuberculosis, drug-induced liver injury, epileptic encephalopathy, dengue hemorrhagic fever, thalassemia, and cardiomyopathy. | — | [ ,
40.31 % Male samples |
— | South East Asian (Thai) |
— | NR | Cases were recruited from King Chulalongkorn Memorial Hospital and the Rheumatology clinic at Ramathbodi hospital. Control data was provided by the Department of Medical Science, Min- istry of Public Health, Thailand. |
PSS011328 | — | — | 133,830 individuals, 0.0 % Male samples |
— | European (British) |
— | UKB | — |
PSS011329 | — | — | 115,207 individuals, 100.0 % Male samples |
— | European (British) |
— | UKB | — |
PSS000575 | PheCode:189.11; ICD9:189.0; ICD10:C64 | — | [
|
— | European | — | UKB | — |
PSS000576 | PheCode:189.2; ICD9:233.7, 236.7, 239.4; ICD10:C67.0, C67.1, C67.2, C67.3, C67.4, C67.5, C67.6, C67.7, C67.8, C67.9, D09.0, D41.4 | — | [
|
— | European | — | UKB | — |
PSS001034 | Cases were individuals with cutaneous lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | BioVU | — |
PSS001035 | Cases were individuals with systemic lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | BioVU | — |
PSS001036 | Cases were individuals with type 1 diabetes. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for type 1 diabetes include: 250.1. Of all the type 1 diabetes cases, 276 had renal manifestations, 240 had ophthalmic manifestations and 475 had neurological manifestations | — | [
|
— | European | — | BioVU | — |
PSS001037 | Cases were individuals with erythematosus conditions. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | BioVU | — |
PSS008438 | — | — | 1,197 individuals | — | Greater Middle Eastern (Middle Eastern, North African or Persian) | Iran (Middle East) | UKB | — |
PSS001038 | Cases were individuals with lupus (localised and systemic). Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | BioVU | — |
PSS001040 | Cases were individuals with systemic lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | eMERGE | — |
PSS001039 | Cases were individuals with cutaneous lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | eMERGE | — |
PSS001042 | Cases were individuals with erythematosus conditions. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | eMERGE | — |
PSS001043 | Cases were individuals with lupus (localised and systemic). Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits.For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record.Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | eMERGE | — |
PSS001041 | Cases were individuals with type 1 diabetes. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for type 1 diabetes include: 250.1. Of the type 1 diabetes cases 165 had renal manifestations, 230 had ophthalmic manifestations and 218 had neurological manifestations. | — | [
|
— | European | — | eMERGE | — |
PSS008441 | — | — | 1,192 individuals | — | Greater Middle Eastern (Middle Eastern, North African or Persian) | Iran (Middle East) | UKB | — |
PSS011186 | — | — | [
|
— | European | — | BioVU | — |
PSS011186 | — | — | [
|
— | African unspecified | — | BioVU | — |
PSS011186 | — | — | [
|
— | Asian unspecified | — | BioVU | — |
PSS007946 | — | — | 1,803 individuals | — | East Asian | China (East Asia) | UKB | — |
PSS011186 | — | — | [
|
— | Not reported | — | BioVU | — |
PSS011188 | — | — | [
|
— | European | — | BioVU | — |
PSS011187 | — | — | [
|
— | African unspecified | — | BioVU | — |
PSS011354 | — | — | 1,144 individuals, 36.5 % Male samples |
Mean = 54.0 years Sd = 6.0 years |
European, Not reported | European (>90%), Not reported | NR | Liver-Bible-2022 |
PSS011355 | — | Median = 17.0 months | 144 individuals | — | European, Not reported | European, Not reported | NR | Liver-Bible-2022 |
PSS010143 | — | — | [
|
— | European | — | UKB | — |
PSS010145 | — | — | [
|
— | European | — | UKB | — |
PSS011364 | — | — | 56,192 individuals | — | European | — | UKB | — |
PSS009506 | eGFR<60 mL/min/1.73m2 used to define CKD (stage 3 or greater) | — | [ ,
0.61 % Male samples |
Mean = 61.0 years | African unspecified | — | 7 cohorts
|
— |
PSS009507 | eGFR<60 mL/min/1.73m2 used to define CKD (stage 3 or greater) | — | [ ,
0.51 % Male samples |
Mean = 58.0 years | Asian unspecified | — | BioMe, UKB, eMERGE | — |
PSS009508 | eGFR<60 mL/min/1.73m2 used to define CKD (stage 3 or greater) | — | [ ,
0.5 % Male samples |
Mean = 61.59 years | European | — | BioMe, UKB, eMERGE | — |
PSS009509 | eGFR<60 mL/min/1.73m2 used to define CKD (stage 3 or greater) | — | [ ,
0.51 % Male samples |
Mean = 64.0 years | Hispanic or Latin American | — | BioMe, UKB, eMERGE | — |
PSS007999 | — | — | 1,806 individuals | — | East Asian | China (East Asia) | UKB | — |
PSS008002 | — | — | 1,803 individuals | — | East Asian | China (East Asia) | UKB | — |
PSS010986 | — | — | 327 individuals | Mean = 69.11 years | European | — | TCGA | — |
PSS010994 | — | — | 692 individuals | Mean = 60.99 years | European | — | TCGA | — |
PSS009051 | — | — | 4,121 individuals | — | European | Poland (NE Europe) | UKB | — |
PSS000960 | Cases were individuals with systemic lupus erythematosus. | — | [
|
— | European | — | NR | — |
PSS000961 | Cases were individuals with systemic lupus erythematosus. | — | [
|
— | European | — | NR | — |
PSS000962 | Cases were individuals with systemic lupus erythematosus. | — | [
|
— | European | — | NR | — |
PSS000963 | Cases were individuals with systemic lupus erythematosus. | — | [
|
— | East Asian (Han Chinese) |
— | NR | — |
PSS011006 | — | — | 1,655 individuals, 8.4 % Male samples |
Mean = 38.1 years Sd = 12.5 years |
East Asian (Korean) |
— | NR | — |
PSS001084 | Moderate Age-Related Diabetes (MARD) vs. controls | — | [
|
— | European | Swedish | ANDIS | — |
PSS001085 | Moderate Obesity-related Diabetes (MOD) vs. controls | — | [
|
— | European | Swedish | ANDIS | — |
PSS001086 | Severe Autoimmune Diabetes (SAID) vs. controls | — | [
|
— | European | Swedish | ANDIS | — |
PSS001087 | Severe Insulin-Deficient Diabetes (SIDD) vs. controls | — | [
|
— | European | Swedish | ANDIS | — |
PSS001088 | Severe Insulin-Resistant Diabetes (SIRD) vs. controls | — | [
|
— | European | Swedish | ANDIS | — |
PSS011670 | Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome | Median = 13.9 years | 10,041 individuals, 44.8 % Male samples |
Mean = 60.8 years | European | — | MGBB | — |
PSS011670 | Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome | Median = 13.9 years | 754 individuals, 44.8 % Male samples |
Mean = 60.8 years | Hispanic or Latin American | — | MGBB | — |
PSS000272 | Primary tumor samples from TCGA | — | [
|
Mean = 69.0 years Sd = 10.0 years |
European | — | TCGA | — |
PSS000272 | — | — | [
|
— | European | — | eMERGE | — |
PSS011670 | Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome | Median = 13.9 years | 181 individuals, 44.8 % Male samples |
Mean = 60.8 years | East Asian | — | MGBB | — |
PSS009110 | — | — | 4,121 individuals | — | European | Poland (NE Europe) | UKB | — |
PSS011670 | Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome | Median = 13.9 years | 343 individuals, 44.8 % Male samples |
Mean = 60.8 years | African unspecified | — | MGBB | — |
PSS011670 | Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome | Median = 13.9 years | 83 individuals, 44.8 % Male samples |
Mean = 60.8 years | South Asian | — | MGBB | — |
PSS009113 | — | — | 4,121 individuals | — | European | Poland (NE Europe) | UKB | — |
PSS011670 | Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome | Median = 13.9 years | 87 individuals, 44.8 % Male samples |
Mean = 60.8 years | Greater Middle Eastern (Middle Eastern, North African or Persian) | — | MGBB | — |
PSS011670 | Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome | Median = 13.9 years | 156 individuals, 44.8 % Male samples |
Mean = 60.8 years | Not reported | — | MGBB | — |
PSS008605 | — | — | 6,645 individuals | — | European | Italy (South Europe) | UKB | — |
PSS000281 | Primary tumor samples from TCGA | — | [
|
Mean = 62.0 years Sd = 12.0 years |
European | — | TCGA | — |
PSS000281 | — | — | [
|
— | European | — | eMERGE | — |
PSS004139 | — | — | [
|
— | African unspecified | — | UKB | — |
PSS004140 | — | — | [
|
— | East Asian | — | UKB | — |
PSS004141 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
PSS004142 | — | — | [
|
— | South Asian | — | UKB | — |
PSS004143 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
PSS000110 | Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 29010 | — | [ ,
46.0 % Male samples |
Mean = 58.0 years | European | — | GERA, UKB | — |
PSS000115 | Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 29020 | — | [ ,
46.0 % Male samples |
Mean = 58.0 years | European | — | GERA, UKB | — |