Trait: intestinal disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009431
Description A non-neoplastic or neoplastic disorder that affects the small or large intestine. [NCIT: C26801]
Trait category
Digestive system disorder
Synonyms 8 synonyms
  • disease of intestine
  • disease or disorder of intestine
  • disorder of intestine
  • intestinal disease
  • intestinal disorder
  • intestine disease
  • intestine disease or disorder
  • intestine disorder
Mapped terms 21 mapped terms
  • DOID:5295
  • ICD10:A04
  • ICD10:A08
  • ICD10:K63
  • ICD10:K63.9
  • ICD9:520-579.99
  • ICD9:560-569.99
  • ICD9:564
  • ICD9:564.4
  • ICD9:569
  • ICD9:569.4
  • ICD9:569.49
  • ICD9:569.89
  • ICD9:569.9
  • ICD9:570-579.99
  • ICD9:575
  • MESH:D007410
  • MONDO:0005020
  • NCIT:C26801
  • NCIt:C26801
  • SCTID:85919009
Child trait(s) 12 child traits

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "intestinal disease" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000017
(GPS_IBD)
PGP000006 |
Khera AV et al. Nat Genet (2018)
Inflammatory bowel disease inflammatory bowel disease 6,907,112
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000017/ScoringFiles/PGS000017.txt.gz - Check Terms/Licenses
PGS000040
(GRS_CeD)
PGP000028 |
Abraham G et al. PLoS Genet (2014)
Coeliac disease celiac disease 228
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000040/ScoringFiles/PGS000040.txt.gz
PGS000041
(GRS-DQ2.5-CeD)
PGP000029 |
Abraham G et al. Genome Med (2015)
Coeliac disease celiac disease 2,513
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000041/ScoringFiles/PGS000041.txt.gz
PGS000042
(GRS-DQ2.5-CeD-imputed)
PGP000029 |
Abraham G et al. Genome Med (2015)
Coeliac disease celiac disease 3,317
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000042/ScoringFiles/PGS000042.txt.gz
PGS000055
(PRS_CRC)
PGP000040 |
Schmit SL et al. J Natl Cancer Inst (2019)
Colorectal cancer colorectal cancer 76
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000055/ScoringFiles/PGS000055.txt.gz
PGS000074
(CC_Colorectal)
PGP000050 |
Graff RE et al. Nat Commun (2021)
Colorectal cancer colorectal cancer 103
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000074/ScoringFiles/PGS000074.txt.gz
PGS000146
(CRC_GRS_27)
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Colorectal cancer risk colorectal cancer 27
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000146/ScoringFiles/PGS000146.txt.gz
PGS000147
(CRC21)
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Colorectal cancer colorectal cancer 21
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000147/ScoringFiles/PGS000147.txt.gz
PGS000148
(CRC63)
PGP000071 |
Jeon J et al. Gastroenterology (2018)
Colorectal cancer colorectal cancer 63
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000148/ScoringFiles/PGS000148.txt.gz
PGS000149
(CRC41)
PGP000072 |
Smith T et al. Br J Cancer (2018)
Colorectal cancer colorectal cancer 41
-
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000149/ScoringFiles/PGS000149.txt.gz
PGS000150
(GRS48)
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Colorectal cancer colorectal cancer 48
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000150/ScoringFiles/PGS000150.txt.gz
PGS000151
(SC_GRS)
PGP000074 |
Xin J et al. Gene (2018)
Colorectal cancer colorectal cancer 14
-
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000151/ScoringFiles/PGS000151.txt.gz
PGS000154
(cGRS_Colorectal)
PGP000075 |
Shi Z et al. Cancer Med (2019)
Colorectal cancer colorectal cancer 30
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000154/ScoringFiles/PGS000154.txt.gz
PGS000316
(GRS42_Coeliac)
PGP000093 |
Sharp SA et al. Aliment Pharmacol Ther (2020)
Coeliac disease celiac disease 42
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000316/ScoringFiles/PGS000316.txt.gz
PGS000367
(PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancer colorectal cancer 74
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000367/ScoringFiles/PGS000367.txt.gz
PGS000368
(PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancer colorectal cancer 74
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000368/ScoringFiles/PGS000368.txt.gz
PGS000369
(PRSWEB_PHECODE153_CRC-Huyghe_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancer colorectal cancer 81
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000369/ScoringFiles/PGS000369.txt.gz
PGS000370
(PRSWEB_PHECODE153_CRC-Huyghe_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancer colorectal cancer 87
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000370/ScoringFiles/PGS000370.txt.gz
PGS000371
(PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancer colorectal cancer 18
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000371/ScoringFiles/PGS000371.txt.gz
PGS000372
(PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancer colorectal cancer 27
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000372/ScoringFiles/PGS000372.txt.gz
PGS000373
(PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancer colorectal cancer 1,119,238
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000373/ScoringFiles/PGS000373.txt.gz
PGS000374
(PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancer colorectal cancer 41
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000374/ScoringFiles/PGS000374.txt.gz
PGS000375
(PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colorectal cancer colorectal cancer 370
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000375/ScoringFiles/PGS000375.txt.gz
PGS000376
(PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 1,111,490
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000376/ScoringFiles/PGS000376.txt.gz
PGS000377
(PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 5,740,814
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000377/ScoringFiles/PGS000377.txt.gz
PGS000378
(PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 1,111,399
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000378/ScoringFiles/PGS000378.txt.gz
PGS000379
(PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 5,715,093
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000379/ScoringFiles/PGS000379.txt.gz
PGS000380
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 1,119,238
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000380/ScoringFiles/PGS000380.txt.gz
PGS000381
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 12
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000381/ScoringFiles/PGS000381.txt.gz
PGS000382
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Colon cancer colon carcinoma 150
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000382/ScoringFiles/PGS000382.txt.gz
PGS000383
(PRSWEB_PHECODE153.3_C19_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of rectum, rectosigmoid junction, and anus rectum cancer,
rectosigmoid junction neoplasm
1,078,799
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000383/ScoringFiles/PGS000383.txt.gz
PGS000384
(PRSWEB_PHECODE153.3_C3-RECTUM_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of rectum, rectosigmoid junction, and anus rectum cancer,
rectosigmoid junction neoplasm
1,104,018
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000384/ScoringFiles/PGS000384.txt.gz
PGS000720
(PRS_Colorectal)
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
Colorectal cancer colorectal cancer 95
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000720/ScoringFiles/PGS000720.txt.gz
PGS000734
(PRS95_CRC)
PGP000142 |
Archambault AN et al. Gastroenterology (2019)
Colorectal cancer colorectal cancer 95
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000734/ScoringFiles/PGS000734.txt.gz
PGS000765
(PRS_CRC95)
PGP000170 |
Huyghe JR et al. Nat Genet (2018)
Colorectal cancer colorectal cancer 95
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000765/ScoringFiles/PGS000765.txt.gz
PGS000785
(CC_Colorectal_IV)
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Colorectal cancer colorectal cancer 103
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000785/ScoringFiles/PGS000785.txt.gz
PGS000801
(GRS40_CRC)
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Colorectal cancer colorectal cancer 40
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000801/ScoringFiles/PGS000801.txt.gz
PGS000802
(CRC_19)
PGP000191 |
He CY et al. Genomics (2021)
Colorectal cancer colorectal cancer 19
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000802/ScoringFiles/PGS000802.txt.gz
PGS000996
(GBE_HC262)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Diverticular disease/diverticulitis diverticular disease,
diverticulitis
368
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000996/ScoringFiles/PGS000996.txt.gz
PGS000997
(GBE_HC1106)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Diverticular disease of intestine (time-to-event) diverticular disease 5,757
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000997/ScoringFiles/PGS000997.txt.gz
PGS001288
(GBE_HC95)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Inflammatory bowel disease inflammatory bowel disease 195
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001288/ScoringFiles/PGS001288.txt.gz
PGS001300
(GBE_BIN21068)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Celiac disease or gluten sensitivity, diagnosed celiac disease 9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001300/ScoringFiles/PGS001300.txt.gz
PGS001301
(GBE_HC303)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Malabsorption/coeliac disease celiac disease 428
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001301/ScoringFiles/PGS001301.txt.gz
PGS001306
(GBE_HC201)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Ulcerative colitis ulcerative colitis 179
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001306/ScoringFiles/PGS001306.txt.gz
PGS001307
(GBE_HC1102)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Ulcerative colitis (time-to-event) ulcerative colitis 809
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001307/ScoringFiles/PGS001307.txt.gz
PGS001330
(GBE_HC1101)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Crohn's disease [regional enteritis] (time-to-event) Crohn's disease 220
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001330/ScoringFiles/PGS001330.txt.gz
PGS001331
(GBE_HC322)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Crohns disease Crohn's disease 257
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001331/ScoringFiles/PGS001331.txt.gz
PGS001369
(GBE_HC1090)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Acute appendicitis (time-to-event) appendicitis 4
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001369/ScoringFiles/PGS001369.txt.gz
PGS001390
(GBE_HC1084)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Duodenal ulcer (time-to-event) duodenal ulcer 220
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001390/ScoringFiles/PGS001390.txt.gz
PGS001516
(GBE_HC1112)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Other diseases of intestine (time-to-event) intestinal disease 90
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001516/ScoringFiles/PGS001516.txt.gz
PGS001776
(PRS45_CC)
PGP000256 |
Gafni A et al. PLoS One (2021)
Colorectal cancer colorectal cancer 45
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001776/ScoringFiles/PGS001776.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

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
PPM000194 PGS000074
(CC_Colorectal)
PSS000113|
European Ancestry|
416,249 individuals
PGP000050 |
Graff RE et al. Nat Commun (2021)
Reported Trait: Colorectal cancer OR: 1.37 [1.33, 1.4] Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB
PPM000474 PGS000154
(cGRS_Colorectal)
PSS000274|
European Ancestry|
13,814 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Colorectal cancer Mean realative risk: 1.08 [1.04, 1.12]
Wilcoxon test (case vs. control) p-value: 8.29e-06
PPM000439 PGS000146
(CRC_GRS_27)
PSS000252|
European Ancestry|
3,269 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Distal colon cancer OR: 1.08 [1.06, 1.11] Study, age, endoscopy, family history
PPM000438 PGS000146
(CRC_GRS_27)
PSS000254|
European Ancestry|
3,292 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Proximal colon cancer OR: 1.07 [1.04, 1.1] Study, age, endoscopy, family history
PPM000464 PGS000149
(CRC41)
PSS000263|
European Ancestry|
286,877 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals with a family history C-index: 0.68 [0.67, 0.7] Wells et al. model (age, diabetes, multi-vitamin usage, family history of colon cancer, years of education, body mass index, alcohol intake, physical activity, non-steroidal anti-inflammatory drug usage, red meat intake, smoking and oestrogen use [women only]) Fully recalibrated model
PPM000463 PGS000149
(CRC41)
PSS000263|
European Ancestry|
286,877 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer C-index: 0.68 [0.67, 0.7] Wells et al. model (age, diabetes, multi-vitamin usage, family history of colon cancer, years of education, body mass index, alcohol intake, physical activity, non-steroidal anti-inflammatory drug usage, red meat intake, smoking and oestrogen use [women only]) Fully recalibrated model
PPM000459 PGS000149
(CRC41)
PSS000262|
European Ancestry|
361,543 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals without a family history C-index: 0.66 [0.62, 0.69] Taylor et al. model (age-specific rates of CRC with estimated relative risks for different degrees of CRC family history) Fully recalibrated model
PPM000458 PGS000149
(CRC41)
PSS000262|
European Ancestry|
361,543 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals with a family history C-index: 0.69 [0.67, 0.7] Taylor et al. model (age-specific rates of CRC with estimated relative risks for different degrees of CRC family history) Fully recalibrated model
PPM000457 PGS000149
(CRC41)
PSS000262|
European Ancestry|
361,543 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer C-index: 0.68 [0.67, 0.7] Taylor et al. model (age-specific rates of CRC with estimated relative risks for different degrees of CRC family history) Fully recalibrated model
PPM000452 PGS000148
(CRC63)
PSS000260|
European Ancestry|
5,500 individuals
PGP000071 |
Jeon J et al. Gastroenterology (2018)
Reported Trait: Colorectal cancer AUROC: 0.59 [0.58, 0.6] age, family history, study, endoscopy history Risk prediction using Model III (Family History & G-score)
PPM000451 PGS000148
(CRC63)
PSS000261|
European Ancestry|
4,666 individuals
PGP000071 |
Jeon J et al. Gastroenterology (2018)
Reported Trait: Colorectal cancer AUROC: 0.63 [0.62, 0.64] age, family history, study, endoscopy history, E-score (height, body mass index, education, history of type 2 diabetes mellitus, smoking status, alcohol consumption, regular aspirin use, regular NSAIDs use, smoking pack-years, dietary factors, total-energy, physical activity) Risk prediction using Model IV (Family history & E-score & G-score)
PPM000450 PGS000148
(CRC63)
PSS000261|
European Ancestry|
4,666 individuals
PGP000071 |
Jeon J et al. Gastroenterology (2018)
Reported Trait: Colorectal cancer AUROC: 0.59 [0.58, 0.6] age, family history, study, endoscopy history Risk prediction using Model III (Family History & G-score)
PPM000093 PGS000040
(GRS_CeD)
PSS000059|
European Ancestry|
2,476 individuals
PGP000028 |
Abraham G et al. PLoS Genet (2014)
Reported Trait: Coeliac disease AUROC: 0.9
PPM000094 PGS000040
(GRS_CeD)
PSS000061|
European Ancestry|
1,040 individuals
PGP000028 |
Abraham G et al. PLoS Genet (2014)
Reported Trait: Coeliac disease AUROC: 0.87
PPM000095 PGS000040
(GRS_CeD)
PSS000062|
European Ancestry|
1,649 individuals
PGP000028 |
Abraham G et al. PLoS Genet (2014)
Reported Trait: Coeliac disease AUROC: 0.86
PPM000096 PGS000040
(GRS_CeD)
PSS000063|
European Ancestry|
2,200 individuals
PGP000028 |
Abraham G et al. PLoS Genet (2014)
Reported Trait: Coeliac disease AUROC: 0.87
PPM000097 PGS000040
(GRS_CeD)
PSS000060|
European Ancestry|
10,304 individuals
PGP000028 |
Abraham G et al. PLoS Genet (2014)
Reported Trait: Coeliac disease AUROC: 0.87
PPM000098 PGS000040
(GRS_CeD)
PSS000064|
European Ancestry|
1,696 individuals
PGP000029 |
Abraham G et al. Genome Med (2015)
|Ext.
Reported Trait: Coeliac disease AUROC: 0.831 [0.808, 0.85]
PPM000099 PGS000040
(GRS_CeD)
PSS000065|
European Ancestry|
1,237 individuals
PGP000029 |
Abraham G et al. Genome Med (2015)
|Ext.
Reported Trait: Coeliac disease in HLA-DQ2.5 carriers AUROC: 0.669 [0.625, 0.713]
PPM000100 PGS000041
(GRS-DQ2.5-CeD)
PSS000065|
European Ancestry|
1,237 individuals
PGP000029 |
Abraham G et al. Genome Med (2015)
Reported Trait: Coeliac disease in HLA-DQ2.5 carriers AUROC: 0.718 [0.676, 0.761]
PPM000101 PGS000042
(GRS-DQ2.5-CeD-imputed)
PSS000065|
European Ancestry|
1,237 individuals
PGP000029 |
Abraham G et al. Genome Med (2015)
Reported Trait: Coeliac disease in HLA-DQ2.5 carriers AUROC: 0.73 [0.687, 0.772]
PPM000465 PGS000149
(CRC41)
PSS000263|
European Ancestry|
286,877 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals without a family history C-index: 0.67 [0.63, 0.71] Wells et al. model (age, diabetes, multi-vitamin usage, family history of colon cancer, years of education, body mass index, alcohol intake, physical activity, non-steroidal anti-inflammatory drug usage, red meat intake, smoking and oestrogen use [women only]) Fully recalibrated model
PPM000453 PGS000148
(CRC63)
PSS000260|
European Ancestry|
5,500 individuals
PGP000071 |
Jeon J et al. Gastroenterology (2018)
Reported Trait: Colorectal cancer AUROC: 0.62 [0.61, 0.63] age, family history, study, endoscopy history, E-score (height, body mass index, education, history of type 2 diabetes mellitus, smoking status, alcohol consumption, regular aspirin use, regular NSAIDs use, regular use of post-menopausal hormones, smoking pack-years, dietary factors, total-energy, physical activity) Risk prediction using Model IV (Family history & E-score & G-score)
PPM000026 PGS000017
(GPS_IBD)
PSS000016|
European Ancestry|
288,978 individuals
PGP000006 |
Khera AV et al. Nat Genet (2018)
Reported Trait: Inflammatory bowel disease AUROC: 0.63 [0.62, 0.64] Nagelkerke’s R2 (estimate of variance explained by the PGS after covariate adjustment): 0.021 age; sex; Ancestry PC 1-4; genotyping chip
PPM000139 PGS000055
(PRS_CRC)
PSS000087|
European Ancestry|
61,335 individuals
PGP000040 |
Schmit SL et al. J Natl Cancer Inst (2019)
Reported Trait: Colorectal cancer Familial relative risk explained (%): 11.9 [9.2, 15.5]
PRS percentile threshold for Odds Ratio > 2: 95.7
age, sex, PCs, PC*study
PPM000140 PGS000055
(PRS_CRC)
PSS000086|
East Asian Ancestry|
21,630 individuals
PGP000040 |
Schmit SL et al. J Natl Cancer Inst (2019)
Reported Trait: Colorectal cancer PRS percentile threshold for Odds Ratio > 2: 99.1 age, sex, PCs, PC*study
PPM000448 PGS000147
(CRC21)
PSS000259|
European Ancestry|
4,080 individuals
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Reported Trait: Colorectal cancer AUROC: 0.63 [0.6, 0.66] Odds Ratio (OR; per allele): 1.07 [1.04, 1.1] environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable consumption, nonsteroidal anti-inflammatory drug use), family history
PPM000445 PGS000146
(CRC_GRS_27)
PSS000257|
European Ancestry|
733 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Colorectal cancer AUROC: 0.56 [0.51, 0.61] Age, endoscopy, family history
PPM000444 PGS000146
(CRC_GRS_27)
PSS000258|
European Ancestry|
1,002 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Colorectal cancer AUROC: 0.59 [0.54, 0.64] Age, endoscopy, family history
PPM000443 PGS000146
(CRC_GRS_27)
PSS000255|
European Ancestry|
4,573 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Rectal cancer OR: 1.12 [1.08, 1.15] Study, age, endoscopy, family history
PPM000442 PGS000146
(CRC_GRS_27)
PSS000251|
European Ancestry|
4,886 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Distal colon cancer OR: 1.08 [1.05, 1.1] Study, age, endoscopy, family history
PPM000441 PGS000146
(CRC_GRS_27)
PSS000253|
European Ancestry|
5,530 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Proximal colon cancer OR: 1.06 [1.03, 1.08] Study, age, endoscopy, family history
PPM000440 PGS000146
(CRC_GRS_27)
PSS000256|
European Ancestry|
3,167 individuals
PGP000069 |
Hsu L et al. Gastroenterology (2015)
Reported Trait: Rectal cancer OR: 1.06 [1.03, 1.09] Study, age, endoscopy, family history
PPM000447 PGS000147
(CRC21)
PSS000259|
European Ancestry|
4,080 individuals
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Reported Trait: Rectal cancer Odds Ratio (OR; per allele): 1.1 [1.06, 1.15] environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable consumption, nonsteroidal anti-inflammatory drug use), family history
PPM000446 PGS000147
(CRC21)
PSS000259|
European Ancestry|
4,080 individuals
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Reported Trait: Colon cancer Odds Ratio (OR; per allele): 1.06 [1.03, 1.09] environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable consumption, nonsteroidal anti-inflammatory drug use), family history
PPM000469 PGS000150
(GRS48)
PSS000269|
European Ancestry|
749 individuals
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Reported Trait: advanced neoplasm (colorectal cancer) C-index: 0.615 Odds Ratio (OR; highest vs. lowest tertile of GRS): 2.74 [1.84, 4.09] sex, age, previous colonoscopy, physical activity
PPM000468 PGS000150
(GRS48)
PSS000269|
European Ancestry|
749 individuals
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Reported Trait: advanced neoplasm (colorectal cancer) C-index: 0.599 Odds Ratio (OR; highest vs. lowest tertile of GRS): 2.64 [1.77, 3.92] sex, age
PPM000467 PGS000150
(GRS48)
PSS000268|
European Ancestry|
1,043 individuals
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Reported Trait: non-advanced adenoma (colorectal) C-index: 0.596 Odds Ratio (OR; highest vs. lowest tertile of GRS): 1.05 [0.7, 1.55] sex, age, previous colonoscopy, physical activity
PPM000466 PGS000150
(GRS48)
PSS000268|
European Ancestry|
1,043 individuals
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Reported Trait: non-advanced adenoma (colorectal) C-index: 0.584 Odds Ratio (OR; highest vs. lowest tertile of GRS): 1.04 [0.7, 1.55] sex, age
PPM000471 PGS000151
(SC_GRS)
PSS000271|
East Asian Ancestry|
3,523 individuals
PGP000074 |
Xin J et al. Gene (2018)
Reported Trait: Colorectal cancer AUROC: 0.607 [0.581, 0.633] smoking status
PPM000462 PGS000149
(CRC41)
PSS000263|
European Ancestry|
286,877 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals without a family history C-index: 0.57 [0.53, 0.6]
PPM000461 PGS000149
(CRC41)
PSS000263|
European Ancestry|
286,877 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals with a family history C-index: 0.56 [0.55, 0.58]
PPM000460 PGS000149
(CRC41)
PSS000263|
European Ancestry|
286,877 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer C-index: 0.57 [0.55, 0.58]
PPM000456 PGS000149
(CRC41)
PSS000262|
European Ancestry|
361,543 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals without a family history C-index: 0.55 [0.52, 0.59]
PPM000455 PGS000149
(CRC41)
PSS000262|
European Ancestry|
361,543 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals with a family history C-index: 0.57 [0.55, 0.58]
PPM000454 PGS000149
(CRC41)
PSS000262|
European Ancestry|
361,543 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer C-index: 0.56 [0.55, 0.58]
PPM000449 PGS000147
(CRC21)
PSS000259|
European Ancestry|
4,080 individuals
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Reported Trait: Colorectal cancer AUROC: 0.56 [0.54, 0.58]
PPM000470 PGS000151
(SC_GRS)
PSS000271|
East Asian Ancestry|
3,523 individuals
PGP000074 |
Xin J et al. Gene (2018)
Reported Trait: Colorectal cancer AUROC: 0.6 [0.579, 0.622]
PPM000485 PGS000154
(cGRS_Colorectal)
PSS000274|
European Ancestry|
13,814 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Colorectal cancer Odds Ratio (OR; high vs. average risk groups): 1.18 [0.87, 1.61]
PPM002087 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Advanced conventional adenoma OR: 1.22 [1.16, 1.28] Odds Ratio (OR, top 20% vs bottom 20%): 1.91 [1.59, 2.29] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM001054 PGS000369
(PRSWEB_PHECODE153_CRC-Huyghe_PT_MGI_20200608)
PSS000540|
European Ancestry|
6,633 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer OR: 1.214 [1.117, 1.32]
β: 0.194 (0.0426)
AUROC: 0.553 [0.525, 0.577] Nagelkerke's Pseudo-R²: 0.00671
Brier score: 0.0828
Odds Ratio (OR, top 1% vs. Rest): 3.04 [1.79, 5.17]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_CRC-Huyghe_PT_MGI_20200608
PPM001057 PGS000372
(PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_PT_UKB_20200608)
PSS000564|
European Ancestry|
24,996 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer OR: 1.279 [1.225, 1.335]
β: 0.246 (0.0218)
AUROC: 0.565 [0.551, 0.577] Nagelkerke's Pseudo-R²: 0.0111
Brier score: 0.0822
Odds Ratio (OR, top 1% vs. Rest): 2.1 [1.53, 2.89]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_PT_UKB_20200608
PPM001061 PGS000376
(PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.177 [1.069, 1.297]
β: 0.163 (0.0491)
AUROC: 0.547 [0.518, 0.576] Nagelkerke's Pseudo-R²: 0.0046
Brier score: 0.0832
Odds Ratio (OR, top 1% vs. Rest): 1.65 [0.753, 3.61]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608
PPM001063 PGS000378
(PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.141 [1.038, 1.254]
β: 0.132 (0.0484)
AUROC: 0.536 [0.509, 0.565] Nagelkerke's Pseudo-R²: 0.00301
Brier score: 0.0832
Odds Ratio (OR, top 1% vs. Rest): 1.82 [0.867, 3.84]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608
PPM001067 PGS000382
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.247 [1.134, 1.371]
β: 0.221 (0.0483)
AUROC: 0.567 [0.54, 0.594] Nagelkerke's Pseudo-R²: 0.00899
Brier score: 0.083
Odds Ratio (OR, top 1% vs. Rest): 1.17 [0.477, 2.87]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608
PPM001052 PGS000367
(PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_MGI_20200608)
PSS000540|
European Ancestry|
6,633 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer OR: 1.198 [1.102, 1.302]
β: 0.181 (0.0425)
AUROC: 0.55 [0.522, 0.574] Nagelkerke's Pseudo-R²: 0.00586
Brier score: 0.0828
Odds Ratio (OR, top 1% vs. Rest): 2.2 [1.21, 4.0]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_MGI_20200608
PPM001053 PGS000368
(PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_UKB_20200608)
PSS000564|
European Ancestry|
24,996 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer OR: 1.516 [1.451, 1.585]
β: 0.416 (0.0225)
AUROC: 0.612 [0.6, 0.625] Nagelkerke's Pseudo-R²: 0.0304
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 3.85 [2.99, 4.96]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_UKB_20200608
PPM001055 PGS000370
(PRSWEB_PHECODE153_CRC-Huyghe_PT_UKB_20200608)
PSS000564|
European Ancestry|
24,996 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer OR: 1.547 [1.48, 1.617]
β: 0.436 (0.0226)
AUROC: 0.617 [0.605, 0.63] Nagelkerke's Pseudo-R²: 0.0332
Brier score: 0.0812
Odds Ratio (OR, top 1% vs. Rest): 4.0 [3.11, 5.13]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_CRC-Huyghe_PT_UKB_20200608
PPM001056 PGS000371
(PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_P_5e-08_UKB_20200608)
PSS000564|
European Ancestry|
24,996 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer OR: 1.254 [1.202, 1.309]
β: 0.226 (0.0217)
AUROC: 0.561 [0.548, 0.573] Nagelkerke's Pseudo-R²: 0.00946
Brier score: 0.0822
Odds Ratio (OR, top 1% vs. Rest): 1.79 [1.28, 2.51]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_P_5e-08_UKB_20200608
PPM001058 PGS000373
(PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PRS-CS_MGI_20200608)
PSS000540|
European Ancestry|
6,633 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer OR: 1.189 [1.093, 1.293]
β: 0.173 (0.0428)
AUROC: 0.548 [0.523, 0.572] Nagelkerke's Pseudo-R²: 0.00529
Brier score: 0.0829
Odds Ratio (OR, top 1% vs. Rest): 1.71 [0.882, 3.33]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PRS-CS_MGI_20200608
PPM001060 PGS000375
(PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_LASSOSUM_MGI_20200608)
PSS000540|
European Ancestry|
6,633 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer OR: 1.113 [1.024, 1.21]
β: 0.107 (0.0425)
AUROC: 0.53 [0.503, 0.555] Nagelkerke's Pseudo-R²: 0.00205
Brier score: 0.083
Odds Ratio (OR, top 1% vs. Rest): 2.76 [1.59, 4.81]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_LASSOSUM_MGI_20200608
PPM001062 PGS000377
(PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.174 [1.066, 1.292]
β: 0.16 (0.049)
AUROC: 0.545 [0.518, 0.574] Nagelkerke's Pseudo-R²: 0.00441
Brier score: 0.0831
Odds Ratio (OR, top 1% vs. Rest): 1.4 [0.607, 3.22]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608
PPM001064 PGS000379
(PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.143 [1.038, 1.258]
β: 0.134 (0.049)
AUROC: 0.536 [0.51, 0.567] Nagelkerke's Pseudo-R²: 0.00302
Brier score: 0.0832
Odds Ratio (OR, top 1% vs. Rest): 0.757 [0.252, 2.28]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608
PPM001065 PGS000380
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.324 [1.203, 1.457]
β: 0.281 (0.0489)
AUROC: 0.569 [0.539, 0.599] Nagelkerke's Pseudo-R²: 0.0138
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 3.85 [2.19, 6.77]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608
PPM001066 PGS000381
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608)
PSS000538|
European Ancestry|
5,031 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colon cancer OR: 1.212 [1.105, 1.33]
β: 0.193 (0.0472)
AUROC: 0.55 [0.522, 0.577] Nagelkerke's Pseudo-R²: 0.00703
Brier score: 0.0831
Odds Ratio (OR, top 1% vs. Rest): 1.6 [0.733, 3.51]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608
PPM001068 PGS000383
(PRSWEB_PHECODE153.3_C19_PRS-CS_MGI_20200608)
PSS000539|
European Ancestry|
3,557 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of rectum, rectosigmoid junction, and anus OR: 1.126 [1.005, 1.262]
β: 0.119 (0.0579)
AUROC: 0.533 [0.5, 0.567] Nagelkerke's Pseudo-R²: 0.00257
Brier score: 0.0829
Odds Ratio (OR, top 1% vs. Rest): 1.34 [0.491, 3.65]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.3_C19_PRS-CS_MGI_20200608
PPM001059 PGS000374
(PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PT_MGI_20200608)
PSS000540|
European Ancestry|
6,633 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Colorectal cancer OR: 1.091 [1.004, 1.185]
β: 0.0872 (0.0423)
AUROC: 0.517 [0.493, 0.541] Nagelkerke's Pseudo-R²: 0.00134
Brier score: 0.083
Odds Ratio (OR, top 1% vs. Rest): 1.88 [0.99, 3.55]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PT_MGI_20200608
PPM001069 PGS000384
(PRSWEB_PHECODE153.3_C3-RECTUM_PRS-CS_MGI_20200608)
PSS000539|
European Ancestry|
3,557 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of rectum, rectosigmoid junction, and anus OR: 1.122 [1.001, 1.257]
β: 0.115 (0.058)
AUROC: 0.531 [0.495, 0.563] Nagelkerke's Pseudo-R²: 0.00251
Brier score: 0.0829
Odds Ratio (OR, top 1% vs. Rest): 1.02 [0.334, 3.14]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.3_C3-RECTUM_PRS-CS_MGI_20200608
PPM002098 PGS000802
(CRC_19)
PSS001032|
East Asian Ancestry|
2,566 individuals
PGP000191 |
He CY et al. Genomics (2021)
Reported Trait: Colorectal cancer Odds Ratio (OR, top 75% vs bottom 25%): 2.53 [1.99, 3.22] Gender, age
PPM002092 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Multiple conventional adenomas OR: 1.25 [1.17, 1.34] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002093 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Multiple serrated polyps OR: 1.09 [1.01, 1.18] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM000805 PGS000316
(GRS42_Coeliac)
PSS000381|
Ancestry Not Reported|
154 individuals
PGP000093 |
Sharp SA et al. Aliment Pharmacol Ther (2020)
Reported Trait: Coeliac disease AUROC: 0.835 [0.76, 0.911]
PPM000804 PGS000316
(GRS42_Coeliac)
PSS000382|
European Ancestry|
379,767 individuals
PGP000093 |
Sharp SA et al. Aliment Pharmacol Ther (2020)
Reported Trait: Coeliac disease AUROC: 0.879 [0.87, 0.888]
PPM002099 PGS000802
(CRC_19)
PSS001031|
East Asian Ancestry|
2,269 individuals
PGP000191 |
He CY et al. Genomics (2021)
Reported Trait: Colorectal cancer Odds Ratio (OR, top 75% vs bottom 25%): 2.12 [1.63, 2.77] Gender, age
PPM001648 PGS000720
(PRS_Colorectal)
PSS000855|
European Ancestry|
400,812 individuals
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
Reported Trait: Incident colorectal cancer AUROC: 0.609 [0.598, 0.62] Genotyping array
PPM001649 PGS000720
(PRS_Colorectal)
PSS000855|
European Ancestry|
400,812 individuals
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
Reported Trait: Incident colorectal cancer AUROC: 0.613 [0.602, 0.624] family history of cancer (in first-degree relatives), genotyping array
PPM001740 PGS000734
(PRS95_CRC)
PSS000894|
European Ancestry|
26,938 individuals
PGP000142 |
Archambault AN et al. Gastroenterology (2019)
Reported Trait: Early-onset colorectal cancer HR: 1.73 [1.17, 2.56] Sex, PCs
PPM001741 PGS000734
(PRS95_CRC)
PSS000893|
European Ancestry|
67,792 individuals
PGP000142 |
Archambault AN et al. Gastroenterology (2019)
Reported Trait: Late-onset colorectal cancer HR: 1.43 [1.34, 1.51] Sex, PCs
PPM001742 PGS000734
(PRS95_CRC)
PSS000896|
European Ancestry|
24,472 individuals
PGP000142 |
Archambault AN et al. Gastroenterology (2019)
Reported Trait: Early-onset colorectal cancer in individuals with no family history of colorectal cancer HR: 1.76 [1.11, 2.78] Sex, PCs
PPM001743 PGS000734
(PRS95_CRC)
PSS000895|
European Ancestry|
61,129 individuals
PGP000142 |
Archambault AN et al. Gastroenterology (2019)
Reported Trait: Late-onset colorectal cancer in individuals with no family history of colorectal cancer HR: 1.42 [1.33, 1.52] Sex, PCs
PPM001744 PGS000734
(PRS95_CRC)
PSS000897|
European Ancestry|
6,668 individuals
PGP000142 |
Archambault AN et al. Gastroenterology (2019)
Reported Trait: Late-onset colorectal cancer in individuals with a family history of colorectal cancer HR: 1.34 [1.17, 1.54] Sex, PCs
PPM002085 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Conventional adeonma OR: 1.17 [1.12, 1.21] Odds Ratio (OR, top 20% vs bottom 20%): 1.63 [1.44, 1.83] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002086 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Non-advanced conventional adenoma OR: 1.12 [1.07, 1.18] Odds Ratio (OR, top 20% vs bottom 20%): 1.44 [1.23, 1.68] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002088 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Serrated polyp OR: 1.09 [1.03, 1.14] Odds Ratio (OR, top 20% vs bottom 20%): 1.24 [1.06, 1.45] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002089 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Serrated polyp with high risk of malignancy OR: 1.1 [1.01, 1.19] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002090 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Serrated polyp with low risk of malignancy OR: 1.08 [1.02, 1.15] Odds Ratio (OR, top 20% vs bottom 20%): 1.25 [1.03, 1.53] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002091 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Synchronous conventional adenoma and serrated polyp OR: 1.24 [1.16, 1.32] Odds Ratio (OR, top 20% vs bottom 20%): 1.96 [1.54, 2.49] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM001961 PGS000765
(PRS_CRC95)
PSS000981|
Multi-ancestry (including European)|
48,807 individuals
PGP000171 |
Fahed AC et al. Nat Commun (2020)
|Ext.
Reported Trait: Prevalent colorectal cancer OR: 1.65 [1.48, 1.85] Age, sex, PCs (1-4)
PPM002094 PGS000802
(CRC_19)
PSS001033|
East Asian Ancestry|
5,465 individuals
PGP000191 |
He CY et al. Genomics (2021)
Reported Trait: Colorectal cancer AUROC: 0.59 [0.57, 0.6] Possible overlap with score development samples
PPM002095 PGS000802
(CRC_19)
PSS001032|
East Asian Ancestry|
2,566 individuals
PGP000191 |
He CY et al. Genomics (2021)
Reported Trait: Colorectal cancer AUROC: 0.61 [0.59, 0.63]
PPM002096 PGS000802
(CRC_19)
PSS001031|
East Asian Ancestry|
2,269 individuals
PGP000191 |
He CY et al. Genomics (2021)
Reported Trait: Colorectal cancer AUROC: 0.59 [0.57, 0.61]
PPM002097 PGS000802
(CRC_19)
PSS001033|
East Asian Ancestry|
5,465 individuals
PGP000191 |
He CY et al. Genomics (2021)
Reported Trait: Colorectal cancer Odds Ratio (OR, top 75% vs bottom 25%): 2.27 [1.95, 2.64] Gender, age possible overlap with score development samples
PPM002040 PGS000074
(CC_Colorectal)
PSS001013|
European Ancestry|
393,723 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.
Reported Trait: Incident colorectal cancer HR: 1.32 [1.27, 1.37] AUROC: 0.704
C-index: 0.704 (0.006)
Age at assessment, sex, family history of bowel cancer, genotyping array, PCs(1-15), wasit to hip ratio, cigarette pack years, frequency of processed meat intake (<1 per week vs. ≥1 per week), moderate and/or strenuous physical activity (days per week), alcohol intake C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM002056 PGS000785
(CC_Colorectal_IV)
PSS001013|
European Ancestry|
393,723 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Reported Trait: Incident colorectal cancer HR: 1.48 [1.43, 1.54] AUROC: 0.716
C-index: 0.716 (0.006)
: 0.345 Age at assessment, sex, family history of bowel cancer, genotyping array, PCs(1-15), wasit to hip ratio, cigarette pack years, frequency of processed meat intake (<1 per week vs. ≥1 per week), moderate and/or strenuous physical activity (days per week), alcohol intake C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM002071 PGS000785
(CC_Colorectal_IV)
PSS001013|
European Ancestry|
393,723 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Reported Trait: Incident colorectal cancer AUROC: 0.708
C-index: 0.708 (0.006)
: 0.319 Age, sex, genotyping array, PCs(1-15) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM009239 PGS001776
(PRS45_CC)
PSS007664|
European Ancestry|
403,998 individuals
PGP000256 |
Gafni A et al. PLoS One (2021)
Reported Trait: Full lifetime risk of colorectal cancer β: 1.848 AUROC: 0.673 [0.664, 0.682] Family history
PPM009240 PGS001776
(PRS45_CC)
PSS007664|
European Ancestry|
403,998 individuals
PGP000256 |
Gafni A et al. PLoS One (2021)
Reported Trait: 10-year risk of colorectal cancer β: 1.088 AUROC: 0.674 [0.665, 0.683] Family history
PPM005200 PGS001390
(GBE_HC1084)
PSS004094|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE duodenal ulcer AUROC: 0.71018 [0.66062, 0.75975] : 0.05605
Incremental AUROC (full-covars): 0.00294
PGS R2 (no covariates): 0.00399
PGS AUROC (no covariates): 0.5623 [0.50635, 0.61825]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005201 PGS001390
(GBE_HC1084)
PSS004095|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE duodenal ulcer AUROC: 0.66565 [0.55325, 0.77805] : 0.04606
Incremental AUROC (full-covars): 0.00253
PGS R2 (no covariates): 0.006
PGS AUROC (no covariates): 0.56376 [0.43513, 0.6924]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005202 PGS001390
(GBE_HC1084)
PSS004096|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE duodenal ulcer AUROC: 0.71045 [0.68829, 0.73261] : 0.06289
Incremental AUROC (full-covars): 0.0043
PGS R2 (no covariates): 0.0047
PGS AUROC (no covariates): 0.55991 [0.53425, 0.58556]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005203 PGS001390
(GBE_HC1084)
PSS004097|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE duodenal ulcer AUROC: 0.70619 [0.66443, 0.74795] : 0.0567
Incremental AUROC (full-covars): 0.00581
PGS R2 (no covariates): 0.00168
PGS AUROC (no covariates): 0.54031 [0.491, 0.58961]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005204 PGS001390
(GBE_HC1084)
PSS004098|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE duodenal ulcer AUROC: 0.68746 [0.67261, 0.70231] : 0.04811
Incremental AUROC (full-covars): 0.00644
PGS R2 (no covariates): 0.00484
PGS AUROC (no covariates): 0.56101 [0.54453, 0.5775]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005205 PGS001369
(GBE_HC1090)
PSS004099|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE acute appendicitis AUROC: 0.62041 [0.53518, 0.70564] : 0.03016
Incremental AUROC (full-covars): -0.00198
PGS R2 (no covariates): 0.00105
PGS AUROC (no covariates): 0.47489 [0.37525, 0.57453]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005206 PGS001369
(GBE_HC1090)
PSS004100|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE acute appendicitis AUROC: 0.8493 [0.77779, 0.9208] : 0.14577
Incremental AUROC (full-covars): 0.00105
PGS R2 (no covariates): 0.00332
PGS AUROC (no covariates): 0.51032 [0.33889, 0.68176]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005207 PGS001369
(GBE_HC1090)
PSS004101|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE acute appendicitis AUROC: 0.56849 [0.52835, 0.60862] : 0.00702
Incremental AUROC (full-covars): -0.00219
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.49616 [0.45378, 0.53854]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005208 PGS001369
(GBE_HC1090)
PSS004102|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE acute appendicitis AUROC: 0.72977 [0.65912, 0.80042] : 0.05613
Incremental AUROC (full-covars): 0.00039
PGS R2 (no covariates): 0.00096
PGS AUROC (no covariates): 0.5334 [0.44427, 0.62254]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005209 PGS001369
(GBE_HC1090)
PSS004103|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE acute appendicitis AUROC: 0.57413 [0.55138, 0.59688] : 0.00617
Incremental AUROC (full-covars): 0.00987
PGS R2 (no covariates): 0.00332
PGS AUROC (no covariates): 0.55036 [0.52746, 0.57326]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005210 PGS001516
(GBE_HC1112)
PSS004129|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other diseases of intestine AUROC: 0.71458 [0.68087, 0.7483] : 0.07935
Incremental AUROC (full-covars): 0.00184
PGS R2 (no covariates): 0.00206
PGS AUROC (no covariates): 0.53644 [0.50022, 0.57266]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005211 PGS001516
(GBE_HC1112)
PSS004130|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other diseases of intestine AUROC: 0.71022 [0.64099, 0.77946] : 0.09409
Incremental AUROC (full-covars): 0.00324
PGS R2 (no covariates): 0.00207
PGS AUROC (no covariates): 0.53358 [0.4606, 0.60656]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005212 PGS001516
(GBE_HC1112)
PSS004131|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other diseases of intestine AUROC: 0.65457 [0.63994, 0.6692] : 0.04465
Incremental AUROC (full-covars): 0.00302
PGS R2 (no covariates): 0.00297
PGS AUROC (no covariates): 0.54106 [0.52507, 0.55705]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005213 PGS001516
(GBE_HC1112)
PSS004132|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other diseases of intestine AUROC: 0.70984 [0.68398, 0.7357] : 0.07373
Incremental AUROC (full-covars): -0.001
PGS R2 (no covariates): 0.00026
PGS AUROC (no covariates): 0.48728 [0.45689, 0.51767]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005214 PGS001516
(GBE_HC1112)
PSS004133|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other diseases of intestine AUROC: 0.62222 [0.6128, 0.63164] : 0.02673
Incremental AUROC (full-covars): 0.00391
PGS R2 (no covariates): 0.0026
PGS AUROC (no covariates): 0.53789 [0.5278, 0.54798]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007743 PGS000996
(GBE_HC262)
PSS004389|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Diverticular disease/diverticulitis AUROC: 0.86271 [0.73099, 0.99443] : 0.12936
Incremental AUROC (full-covars): 0.00213
PGS R2 (no covariates): 0.00894
PGS AUROC (no covariates): 0.62053 [0.46342, 0.77764]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007744 PGS000996
(GBE_HC262)
PSS004390|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Diverticular disease/diverticulitis AUROC: 0.91481 [0.74874, 1.0] : 0.2785
Incremental AUROC (full-covars): 0.00029
PGS R2 (no covariates): 0.03618
PGS AUROC (no covariates): 0.74736 [0.4992, 0.99551]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007745 PGS000996
(GBE_HC262)
PSS004391|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Diverticular disease/diverticulitis AUROC: 0.70041 [0.67086, 0.72996] : 0.04948
Incremental AUROC (full-covars): 0.0039
PGS R2 (no covariates): 0.00095
PGS AUROC (no covariates): 0.52419 [0.48988, 0.55849]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007746 PGS000996
(GBE_HC262)
PSS004392|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Diverticular disease/diverticulitis AUROC: 0.80455 [0.70545, 0.90364] : 0.1
Incremental AUROC (full-covars): 0.00844
PGS R2 (no covariates): 0.00928
PGS AUROC (no covariates): 0.62862 [0.53202, 0.72522]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007747 PGS000996
(GBE_HC262)
PSS004393|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Diverticular disease/diverticulitis AUROC: 0.67555 [0.65884, 0.69227] : 0.03898
Incremental AUROC (full-covars): 0.00841
PGS R2 (no covariates): 0.00372
PGS AUROC (no covariates): 0.55186 [0.53326, 0.57047]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007748 PGS000997
(GBE_HC1106)
PSS004124|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE diverticular disease of intestine AUROC: 0.70831 [0.67789, 0.73873] : 0.07998
Incremental AUROC (full-covars): -0.0081
PGS R2 (no covariates): 0.00158
PGS AUROC (no covariates): 0.52939 [0.49423, 0.56454]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007749 PGS000997
(GBE_HC1106)
PSS004125|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE diverticular disease of intestine AUROC: 0.75551 [0.65982, 0.85119] : 0.08781
Incremental AUROC (full-covars): -0.01168
PGS R2 (no covariates): 0.00059
PGS AUROC (no covariates): 0.52785 [0.41459, 0.64111]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007750 PGS000997
(GBE_HC1106)
PSS004126|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE diverticular disease of intestine AUROC: 0.7155 [0.70514, 0.72586] : 0.10502
Incremental AUROC (full-covars): 0.01733
PGS R2 (no covariates): 0.01777
PGS AUROC (no covariates): 0.59105 [0.57889, 0.60321]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007751 PGS000997
(GBE_HC1106)
PSS004127|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE diverticular disease of intestine AUROC: 0.73365 [0.70818, 0.75911] : 0.09377
Incremental AUROC (full-covars): 0.01275
PGS R2 (no covariates): 0.01222
PGS AUROC (no covariates): 0.57957 [0.54784, 0.6113]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007752 PGS000997
(GBE_HC1106)
PSS004128|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE diverticular disease of intestine AUROC: 0.68053 [0.67412, 0.68694] : 0.07483
Incremental AUROC (full-covars): 0.01974
PGS R2 (no covariates): 0.01533
PGS AUROC (no covariates): 0.5794 [0.57219, 0.58662]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008938 PGS001288
(GBE_HC95)
PSS004741|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Inflammatory bowel disease AUROC: 0.64251 [0.54711, 0.73791] : 0.05914
Incremental AUROC (full-covars): 0.00245
PGS R2 (no covariates): 0.00027
PGS AUROC (no covariates): 0.52101 [0.42335, 0.61867]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008939 PGS001288
(GBE_HC95)
PSS004742|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Inflammatory bowel disease AUROC: 0.89429 [0.79091, 0.99767] : 0.2051
Incremental AUROC (full-covars): -0.0033
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.48687 [0.28135, 0.6924]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008940 PGS001288
(GBE_HC95)
PSS004743|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Inflammatory bowel disease AUROC: 0.63478 [0.60168, 0.66787] : 0.02287
Incremental AUROC (full-covars): 0.02492
PGS R2 (no covariates): 0.0102
PGS AUROC (no covariates): 0.58475 [0.55242, 0.61708]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008941 PGS001288
(GBE_HC95)
PSS004744|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Inflammatory bowel disease AUROC: 0.66934 [0.62525, 0.71343] : 0.03759
Incremental AUROC (full-covars): 0.004
PGS R2 (no covariates): 0.00311
PGS AUROC (no covariates): 0.55448 [0.50125, 0.6077]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008942 PGS001288
(GBE_HC95)
PSS004745|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Inflammatory bowel disease AUROC: 0.59461 [0.57544, 0.61378] : 0.01221
Incremental AUROC (full-covars): 0.06405
PGS R2 (no covariates): 0.01191
PGS AUROC (no covariates): 0.59586 [0.5768, 0.61492]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008997 PGS001300
(GBE_BIN21068)
PSS003667|
African Ancestry|
969 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity AUROC: 0.77521 [0.67165, 0.87877] : 0.10494
Incremental AUROC (full-covars): 0.00391
PGS R2 (no covariates): 0.00465
PGS AUROC (no covariates): 0.54048 [0.39518, 0.68579]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008998 PGS001300
(GBE_BIN21068)
PSS003668|
European Ancestry|
9,024 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity AUROC: 0.67118 [0.63561, 0.70676] : 0.04801
Incremental AUROC (full-covars): 0.03638
PGS R2 (no covariates): 0.02217
PGS AUROC (no covariates): 0.58541 [0.54195, 0.62888]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008999 PGS001300
(GBE_BIN21068)
PSS003669|
South Asian Ancestry|
1,145 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity AUROC: 0.78803 [0.69728, 0.87878] : 0.09336
Incremental AUROC (full-covars): 0.00365
PGS R2 (no covariates): 0.00127
PGS AUROC (no covariates): 0.56184 [0.43287, 0.6908]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009000 PGS001300
(GBE_BIN21068)
PSS003670|
European Ancestry|
24,310 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity AUROC: 0.6734 [0.64935, 0.69745] : 0.04185
Incremental AUROC (full-covars): 0.08398
PGS R2 (no covariates): 0.02957
PGS AUROC (no covariates): 0.62888 [0.60094, 0.65683]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009001 PGS001301
(GBE_HC303)
PSS004423|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Malabsorption/coeliac disease AUROC: 0.84259 [0.73437, 0.95081] : 0.12308
Incremental AUROC (full-covars): 0.02463
PGS R2 (no covariates): 0.03018
PGS AUROC (no covariates): 0.68151 [0.48835, 0.87467]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009002 PGS001301
(GBE_HC303)
PSS004424|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Malabsorption/coeliac disease AUROC: 0.81472 [0.7798, 0.84965] : 0.15108
Incremental AUROC (full-covars): 0.1791
PGS R2 (no covariates): 0.14221
PGS AUROC (no covariates): 0.80994 [0.77441, 0.84547]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009003 PGS001301
(GBE_HC303)
PSS004425|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Malabsorption/coeliac disease AUROC: 0.81699 [0.73267, 0.9013] : 0.11397
Incremental AUROC (full-covars): 0.06035
PGS R2 (no covariates): 0.07098
PGS AUROC (no covariates): 0.76239 [0.65258, 0.87221]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009004 PGS001301
(GBE_HC303)
PSS004426|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Malabsorption/coeliac disease AUROC: 0.83351 [0.81372, 0.85329] : 0.14905
Incremental AUROC (full-covars): 0.25775
PGS R2 (no covariates): 0.14224
PGS AUROC (no covariates): 0.82867 [0.80826, 0.84908]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009024 PGS001306
(GBE_HC201)
PSS004339|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ulcerative colitis AUROC: 0.62904 [0.5093, 0.74878] : 0.04535
Incremental AUROC (full-covars): -0.00864
PGS R2 (no covariates): 0.00044
PGS AUROC (no covariates): 0.51081 [0.37987, 0.64174]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009025 PGS001306
(GBE_HC201)
PSS004340|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ulcerative colitis AUROC: 0.89429 [0.79357, 0.99502] : 0.20499
Incremental AUROC (full-covars): -0.0033
PGS R2 (no covariates): 2e-05
PGS AUROC (no covariates): 0.49111 [0.35854, 0.62368]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009026 PGS001306
(GBE_HC201)
PSS004341|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ulcerative colitis AUROC: 0.66162 [0.6277, 0.69554] : 0.03336
Incremental AUROC (full-covars): 0.04247
PGS R2 (no covariates): 0.02036
PGS AUROC (no covariates): 0.63006 [0.5958, 0.66432]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009027 PGS001306
(GBE_HC201)
PSS004342|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ulcerative colitis AUROC: 0.67522 [0.62537, 0.72506] : 0.03696
Incremental AUROC (full-covars): 0.01011
PGS R2 (no covariates): 0.00545
PGS AUROC (no covariates): 0.56552 [0.50815, 0.62289]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009028 PGS001306
(GBE_HC201)
PSS004343|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ulcerative colitis AUROC: 0.6157 [0.59481, 0.63659] : 0.01676
Incremental AUROC (full-covars): 0.08728
PGS R2 (no covariates): 0.0193
PGS AUROC (no covariates): 0.62452 [0.60374, 0.6453]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009029 PGS001307
(GBE_HC1102)
PSS004119|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ulcerative colitis AUROC: 0.62873 [0.51002, 0.74744] : 0.04344
Incremental AUROC (full-covars): -0.00895
PGS R2 (no covariates): 0.00027
PGS AUROC (no covariates): 0.50641 [0.39121, 0.62161]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009030 PGS001307
(GBE_HC1102)
PSS004120|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ulcerative colitis AUROC: 0.89582 [0.79576, 0.99588] : 0.20607
Incremental AUROC (full-covars): -0.00177
PGS R2 (no covariates): 0.00203
PGS AUROC (no covariates): 0.55433 [0.4473, 0.66136]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009031 PGS001307
(GBE_HC1102)
PSS004121|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ulcerative colitis AUROC: 0.65578 [0.62353, 0.68804] : 0.03272
Incremental AUROC (full-covars): 0.04212
PGS R2 (no covariates): 0.0169
PGS AUROC (no covariates): 0.6106 [0.57717, 0.64402]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009032 PGS001307
(GBE_HC1102)
PSS004122|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ulcerative colitis AUROC: 0.66008 [0.61042, 0.70974] : 0.03192
Incremental AUROC (full-covars): 0.00203
PGS R2 (no covariates): 0.0036
PGS AUROC (no covariates): 0.55808 [0.506, 0.61016]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009033 PGS001307
(GBE_HC1102)
PSS004123|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ulcerative colitis AUROC: 0.63965 [0.62036, 0.65895] : 0.02376
Incremental AUROC (full-covars): 0.1085
PGS R2 (no covariates): 0.02383
PGS AUROC (no covariates): 0.63847 [0.61861, 0.65833]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009137 PGS001330
(GBE_HC1101)
PSS004114|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE crohn's disease [regional enteritis] AUROC: 0.66243 [0.55234, 0.77252] : 0.05286
Incremental AUROC (full-covars): -0.02175
PGS R2 (no covariates): 0.00138
PGS AUROC (no covariates): 0.46272 [0.36718, 0.55826]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009138 PGS001330
(GBE_HC1101)
PSS004115|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE crohn's disease [regional enteritis] AUROC: 0.86369 [0.7806, 0.94678] : 0.13339
Incremental AUROC (full-covars): 0.0
PGS R2 (no covariates): 0.14319
PGS AUROC (no covariates): 0.10664 [0.0, 0.28372]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009139 PGS001330
(GBE_HC1101)
PSS004116|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE crohn's disease [regional enteritis] AUROC: 0.60269 [0.55209, 0.65328] : 0.01102
Incremental AUROC (full-covars): 0.02413
PGS R2 (no covariates): 0.00621
PGS AUROC (no covariates): 0.57593 [0.52318, 0.62867]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009140 PGS001330
(GBE_HC1101)
PSS004117|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE crohn's disease [regional enteritis] AUROC: 0.69933 [0.63548, 0.76318] : 0.0344
Incremental AUROC (full-covars): 0.00201
PGS R2 (no covariates): 0.00147
PGS AUROC (no covariates): 0.53846 [0.46042, 0.6165]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009141 PGS001330
(GBE_HC1101)
PSS004118|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE crohn's disease [regional enteritis] AUROC: 0.55852 [0.52842, 0.58862] : 0.00474
Incremental AUROC (full-covars): 0.07412
PGS R2 (no covariates): 0.00669
PGS AUROC (no covariates): 0.5714 [0.54073, 0.60207]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009142 PGS001331
(GBE_HC322)
PSS004442|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Crohns disease AUROC: 0.65892 [0.54485, 0.77299] : 0.05502
Incremental AUROC (full-covars): -0.02526
PGS R2 (no covariates): 4e-05
PGS AUROC (no covariates): 0.49152 [0.37858, 0.60446]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009143 PGS001331
(GBE_HC322)
PSS004444|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Crohns disease AUROC: 0.61269 [0.55802, 0.66736] : 0.01161
Incremental AUROC (full-covars): 0.02705
PGS R2 (no covariates): 0.00677
PGS AUROC (no covariates): 0.57919 [0.52051, 0.63786]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009144 PGS001331
(GBE_HC322)
PSS004445|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Crohns disease AUROC: 0.71 [0.64649, 0.7735] : 0.03928
Incremental AUROC (full-covars): 0.01378
PGS R2 (no covariates): 0.00366
PGS AUROC (no covariates): 0.56349 [0.47905, 0.64793]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009145 PGS001331
(GBE_HC322)
PSS004446|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Crohns disease AUROC: 0.56362 [0.53297, 0.59427] : 0.00529
Incremental AUROC (full-covars): 0.06267
PGS R2 (no covariates): 0.0063
PGS AUROC (no covariates): 0.57326 [0.54246, 0.60406]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

Evaluated Samples

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
PSS003667
[
  • 18 cases
  • , 951 controls
]
African unspecified UKB
PSS003668
[
  • 213 cases
  • , 8,811 controls
]
European non-white British ancestry UKB
PSS003669
[
  • 16 cases
  • , 1,129 controls
]
South Asian UKB
PSS003670
[
  • 468 cases
  • , 23,842 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS000016 Inflammatory bowel disease ascertainment was based on report in an interview with a trained nurse, or an ICD-9 code of 555.X or ICD-10 code of K51.X in hospitalization records.
[
  • 5,853 cases
  • , 283,125 controls
]
European UKB UKB Phase 2
PSS004741
[
  • 36 cases
  • , 6,461 controls
]
African unspecified UKB
PSS004742
[
  • 5 cases
  • , 1,699 controls
]
East Asian UKB
PSS004743
[
  • 284 cases
  • , 24,621 controls
]
European non-white British ancestry UKB
PSS004744
[
  • 125 cases
  • , 7,706 controls
]
South Asian UKB
PSS004745
[
  • 892 cases
  • , 66,533 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004120
[
  • 5 cases
  • , 1,699 controls
]
East Asian UKB
PSS004121
[
  • 260 cases
  • , 24,645 controls
]
European non-white British ancestry UKB
PSS004122
[
  • 113 cases
  • , 7,718 controls
]
South Asian UKB
PSS004123
[
  • 788 cases
  • , 66,637 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004339
[
  • 27 cases
  • , 6,470 controls
]
African unspecified UKB
PSS004340
[
  • 5 cases
  • , 1,699 controls
]
East Asian UKB
PSS004341
[
  • 239 cases
  • , 24,666 controls
]
European non-white British ancestry UKB
PSS004342
[
  • 103 cases
  • , 7,728 controls
]
South Asian UKB
PSS004343
[
  • 720 cases
  • , 66,705 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS000855 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). Colorectal Cancer=(ICD-9 = 153, 154.1 or ICD-10 = C18, C20) Median = 5.8 years
[
  • 2,458 cases
  • , 398,354 controls
]
,
46.5 % Male samples
European UKB
PSS000059
[
  • 647 cases
  • , 1,829 controls
]
European
(Finnish)
FINRISK, Health 2000
PSS000060
[
  • 5,907 cases
  • , 4,397 controls
]
European
(British)
NR Immunochip
PSS000061
[
  • 497 cases
  • , 543 controls
]
European
(Italian)
NR
PSS000062
[
  • 803 cases
  • , 846 controls
]
European
(Dutch)
NR
PSS000063
[
  • 778 cases
  • , 1,422 controls
]
European
(British)
NR
PSS000064
[
  • 1,259 cases
  • , 437 controls
]
European NIDDK
PSS000065 The HLA-DQ2.5-positive subset of NIDDK-CIDR
[
  • 1,094 cases
  • , 143 controls
]
European NIDDK HLA alleles were imputed using SNP2HLA
PSS004389
[
  • 11 cases
  • , 6,486 controls
]
African unspecified UKB
PSS004390
[
  • 2 cases
  • , 1,702 controls
]
East Asian UKB
PSS004391
[
  • 267 cases
  • , 24,638 controls
]
European non-white British ancestry UKB
PSS004392
[
  • 14 cases
  • , 7,817 controls
]
South Asian UKB
PSS004393
[
  • 917 cases
  • , 66,508 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS000538 PheCode:153.2; ICD9CM:153.0, 153.1, 153.2, 153.3, 153.4, 153.5, 153.6, 153.7, 153.8, 153.9, 159.0, 209.10, 209.11, 209.12, 209.13, 209.14, 209.15, 209.16, 230.3, V10.05; ICD10CM:C18, C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0
[
  • 462 cases
  • , 4,569 controls
]
European MGI
PSS000539 PheCode:153.3; ICD9CM:154.0, 154.1, 154.2, 154.3, 209.17, 230.4, 230.5, 230.6, 796.70, 796.71, 796.72, 796.73, 796.74, 796.76, V10.06; ICD10CM:C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619
[
  • 325 cases
  • , 3,232 controls
]
European MGI
PSS000540 PheCode:153; ICD9CM:153.0, 153.1, 153.2, 153.3, 153.4, 153.5, 153.6, 153.7, 153.8, 153.9, 154.0, 154.1, 154.2, 154.3, 154.8, 159.0, 209.10, 209.11, 209.12, 209.13, 209.14, 209.15, 209.16, 209.17, 230.3, 230.4, 230.5, 230.6, 796.70, 796.71, 796.72, 796.73, 796.74, 796.76, V10.05, V10.06; ICD10CM:C18, C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C19, C20, C21.0, C21.1, C21.2, C21.8, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.026, C7A.029, D01.0, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619
[
  • 607 cases
  • , 6,026 controls
]
European MGI
PSS001013 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases.
[
  • 2,725 cases
  • , 390,998 controls
]
European UKB
PSS000893 Participants were 50 years of age or older. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection.
[
  • 1,068 cases
  • , 66,724 controls
]
Range = [50.0, 100.0] years European RPGEH
PSS000894 Participants were under 50 years of age. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection.
[
  • 25 cases
  • , 26,913 controls
]
Range = [0.0, 50.0] years European RPGEH
PSS000251 Colorectal adenocarcinoma located in the distal colon confirmed by medical records, pathology reports, or death certificate
[
  • 1,026 cases
  • , 3,860 controls
]
,
0.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000252 Colorectal adenocarcinoma located in the distal colon confirmed by medical records, pathology reports, or death certificate
[
  • 827 cases
  • , 2,442 controls
]
,
100.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000253 Colorectal adenocarcinoma located in the proximal colon confirmed by medical records, pathology reports, or death certificate
[
  • 1,670 cases
  • , 3,860 controls
]
,
0.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000254 Colorectal adenocarcinoma located in the proximal colon confirmed by medical records, pathology reports, or death certificate
[
  • 850 cases
  • , 2,442 controls
]
,
100.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000255 Colorectal adenocarcinoma located in the rectum confirmed by medical records, pathology reports, or death certificate
[
  • 713 cases
  • , 3,860 controls
]
,
0.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000256 Colorectal adenocarcinoma located in the rectum confirmed by medical records, pathology reports, or death certificate
[
  • 725 cases
  • , 2,442 controls
]
,
100.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000257 Colorectal adenocarcinoma confirmed by medical records, pathology reports, or death certificate
[
  • 380 cases
  • , 353 controls
]
,
0.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000258 Colorectal adenocarcinoma confirmed by medical records, pathology reports, or death certificate
[
  • 486 cases
  • , 516 controls
]
,
100.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000564 PheCode:153; ICD9:154.8; ICD10:C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C19, C20, C21.0, C21.1, C21.8, C26.0, D01.0, D01.1, D01.2, D01.3
[
  • 2,271 cases
  • , 22,725 controls
]
European UKB
PSS000259
[
  • 1,336 cases
  • , 2,744 controls
]
,
57.21 % Male samples
Range = [25.0, 90.0] years European
(Spanish)
MCC-Spain
PSS000897 Participants were 50 years of age or older with a history of colorectal cancer. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection.
[
  • 202 cases
  • , 6,466 controls
]
Range = [50.0, 100.0] years European RPGEH
PSS004423
[
  • 7 cases
  • , 6,490 controls
]
African unspecified UKB
PSS004424
[
  • 178 cases
  • , 24,727 controls
]
European non-white British ancestry UKB
PSS004425
[
  • 24 cases
  • , 7,807 controls
]
South Asian UKB
PSS004426
[
  • 451 cases
  • , 66,974 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS000086
[
  • 8,580 cases
  • , 13,050 controls
]
East Asian 8 cohorts
  • COLON
  • ,CORSA
  • ,DACHS
  • ,EPIC
  • ,HPFS
  • ,MGI
  • ,NHS
  • ,UKB
PSS000087
[
  • 12,952 cases
  • , 48,383 controls
]
European 8 cohorts
  • COLON
  • ,CORSA
  • ,DACHS
  • ,EPIC
  • ,HPFS3
  • ,MGI
  • ,NHS3
  • ,UKB
PSS004442
[
  • 20 cases
  • , 6,477 controls
]
African unspecified UKB
PSS001030 Cases included individuals with polyps. Of the 5331 cases, 2952 had conventional adenomas (CAs), 1585 had serrated polyps (SAs) and 794 had sychronous CAs and SPs. CAs were defined as tubular, tubulovillous and villous adenomas and adenomas with high-grade dysplasia. Advanced CAs were defined by at least one CA ≥10 mm in diameter or with advanced histology (tubulovillous/villous histological features or high-grade/severe dysplasia) or ≥3 CAs regardless of histology or size. SPs were defined as hyperplastic polyps and mixed/serrated adenomas. Individuals at high risk of malignancy were defined as having SPs located in the proximal colon or with a size of ≥10 mm. Mixed/serrated ademonas were defined as both mixed polyps (those with both adenomatous and hyperplastic changes in histology) and polyps with any serrated diagnosis (e.g. serrated adenomas, serrated polyps and SSA/Ps). If a participant had both CAs and SPs in an endoscopy, each type of the polyps were recorded separately, and considered the patient as a synchronous SP and CA case.
[
  • 5,331 cases
  • , 22,095 controls
]
,
30.0 % Male samples
Mean = 63.2 years
Sd = 10.0 years
European HPFS, NHS, NHS2
PSS004444
[
  • 105 cases
  • , 24,800 controls
]
European non-white British ancestry UKB
PSS004445
[
  • 42 cases
  • , 7,789 controls
]
South Asian UKB
PSS004446
[
  • 361 cases
  • , 67,064 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS001031 Exclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases related to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations.
[
  • 1,027 cases
  • , 1,242 controls
]
,
51.39 % Male samples
East Asian
(Han-Chinese)
NR Subects obtained from First Hospital of China Medical University (CMU)
PSS001032 Exclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases related to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations.
[
  • 1,152 cases
  • , 1,414 controls
]
,
53.86 % Male samples
East Asian
(Han-Chinese)
NR Subjects obtained from Fudan University Shanghai Cancer Center (FUSCC)
PSS001033 Exclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases related to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations.
[
  • 2,448 cases
  • , 3,017 controls
]
,
53.72 % Male samples
East Asian
(Han-Chinese)
NR Subjects obtained from Sun Yat-Sen University Cancer Center (SYSUCC)
PSS000260
[
  • 2,568 cases
  • , 2,932 controls
]
,
0.0 % Male samples
Mean (Cases) = 68.8 years
Sd (Cases) = 9.7 years
European 14 cohorts
  • CPSII
  • ,DACHS
  • ,DALS
  • ,HPFS
  • ,Hawaiian Colo2&3
  • ,KCCS
  • ,MCCS
  • ,MEC
  • ,MECC
  • ,NFCCR
  • ,NHS
  • ,PLCO
  • ,VITAL
  • ,WHI
PSS000261
[
  • 2,307 cases
  • , 2,359 controls
]
,
100.0 % Male samples
Mean (Cases) = 67.8 years
Sd (Cases) = 9.7 years
European 14 cohorts
  • CPSII
  • ,DACHS
  • ,DALS
  • ,HPFS
  • ,Hawaiian Colo2&3
  • ,KCCS
  • ,MCCS
  • ,MEC
  • ,MECC
  • ,NFCCR
  • ,NHS
  • ,PLCO
  • ,VITAL
  • ,WHI
PSS000262 Excluding participants with prevalent cancer at recruitment colorectal cancer was defined as ICD codes: C18 (except C18.1, Appendix), C19 and C20
[
  • 1,623 cases
  • , 359,920 controls
]
,
45.0 % Male samples
Mean = 57.0 years
IQR = [50.0, 63.0] years
European UKB Follow-up time = 1,751,445 person years
PSS000263 Excluding participants with prevalent cancer at recruitment colorectal cancer was defined as ICD codes: C18 (except C18.1, Appendix), C19 and C20
[
  • 1,294 cases
  • , 285,583 controls
]
,
46.0 % Male samples
Mean = 57.0 years
IQR = [50.0, 63.0] years
European UKB Follow-up time = 1,388,191 person years
PSS000268 Unselected participants of the German screening colonoscopy program are recruited by gastroenterology practices in southern Germany in this multicenter study.Colonoscopy and histology reports are collected and information from these reports is extracted independently in a standardized way by two trained investigators, who are blinded with respect to questionnaire and genotype data and who resolve discrepancies by consensus after further review and discussion. Based on colonoscopy reports, participants are categorized with respect to the most advanced lesion: CRC, advanced adenoma (AA), non-advanced adenoma (NAA), hyperplastic polyp, or undefined polyp. Advanced adenomas are defined as adenomas ≥1 cm or adenomas with cellular or structural atypia.
[
  • 294 cases
  • , 749 controls
]
,
61.74 % Male samples
Range = [50.0, 79.0] years European BLITZ
PSS000269 Unselected participants of the German screening colonoscopy program are recruited by gastroenterology practices in southern Germany in this multicenter study.Colonoscopy and histology reports are collected and information from these reports is extracted independently in a standardized way by two trained investigators, who are blinded with respect to questionnaire and genotype data and who resolve discrepancies by consensus after further review and discussion. Based on colonoscopy reports, participants are categorized with respect to the most advanced lesion: CRC, advanced adenoma (AA), non-advanced adenoma (NAA), hyperplastic polyp, or undefined polyp. Advanced adenomas are defined as adenomas ≥1 cm or adenomas with cellular or structural atypia.
[
  • 249 cases
  • , 500 controls
]
,
60.48 % Male samples
Range = [50.0, 79.0] years European BLITZ
PSS000271
[
  • 1,316 cases
  • , 2,207 controls
]
,
40.85 % Male samples
Mean (Cases) = 58.34 years
Sd (Cases) = 12.85 years
East Asian
(Han Chinese)
NCRCC
PSS000895 Participants were 50 years of age or older with no family history of colorectal cancer. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection.
[
  • 871 cases
  • , 60,258 controls
]
Range = [50.0, 100.0] years European RPGEH
PSS000896 Participants were under 50 years of age with no family history of colorectal cancer. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection.
[
  • 18 cases
  • , 24,454 controls
]
Range = [0.0, 50.0] years European RPGEH
PSS000381 Control subjects (n = 40) were paediatric general gastroenterology patients whom were negative for coeliac disease by both intestinal biopsy and negative tissue transglutaminase serology.
[
  • 0 cases
  • , 40 controls
]
,
48.0 % Male samples
Mean = 4.9 years
Sd = 4.0 years
NR STOLLERY_CC
PSS000381 Diagnosis of coeliac disease was made by a modification of European serological diagnostic guidelines for patients referred to a tertiary paediatric clinic in Alberta, Canada, for consideration of coeliac disease diagnosis
[
  • 63 cases
  • , 0 controls
]
,
63.0 % Male samples
Mean = 8.6 years
Sd = 3.9 years
NR STOLLERY_CC
PSS000381 Diagnosis of coeliac disease was made by endoscopy for patients referred to a tertiary paediatric clinic in Alberta, Canada, for consideration of coeliac disease diagnosis
[
  • 51 cases
  • , 0 controls
]
,
57.0 % Male samples
Mean = 7.5 years
Sd = 3.8 years
NR STOLLERY_CC
PSS000382 Coeliac disease cases were identified using either hospital admission code and/or self‐reported coeliac disease.
[
  • 1,237 cases
  • , 378,530 controls
]
European UKB
PSS004094
[
  • 95 cases
  • , 6,402 controls
]
African unspecified UKB
PSS007664 Cases were individuals with (incident) invasive colorectal cancer diagnosed after a baseline assessment. Colorectal cancer was identified using linkedc cancer registry data using ICD-9 (1530–1539, 1540–1541), ICD-10 (C18–C20) codes or self-reported disease).
[
  • 2,992 cases
  • , 401,006 controls
]
,
45.85 % Male samples
European UKB
PSS004095
[
  • 24 cases
  • , 1,680 controls
]
East Asian UKB
PSS004096
[
  • 481 cases
  • , 24,424 controls
]
European non-white British ancestry UKB
PSS004101
[
  • 190 cases
  • , 24,715 controls
]
European non-white British ancestry UKB
PSS004102
[
  • 37 cases
  • , 7,794 controls
]
South Asian UKB
PSS004103
[
  • 612 cases
  • , 66,813 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004097
[
  • 135 cases
  • , 7,696 controls
]
South Asian UKB
PSS004098
[
  • 1,164 cases
  • , 66,261 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004099
[
  • 35 cases
  • , 6,462 controls
]
African unspecified UKB
PSS004100
[
  • 9 cases
  • , 1,695 controls
]
East Asian UKB
PSS000274 Primary tumor samples from TCGA
[
  • 387 cases
  • , 0 controls
]
Mean = 68.0 years
Sd = 13.0 years
European TCGA
PSS000274
[
  • 0 cases
  • , 13,427 controls
]
European eMERGE
PSS004114
[
  • 20 cases
  • , 6,477 controls
]
African unspecified UKB
PSS004115
[
  • 2 cases
  • , 1,702 controls
]
East Asian UKB
PSS004116
[
  • 117 cases
  • , 24,788 controls
]
European non-white British ancestry UKB
PSS004117
[
  • 48 cases
  • , 7,783 controls
]
South Asian UKB
PSS004118
[
  • 393 cases
  • , 67,032 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004119
[
  • 27 cases
  • , 6,470 controls
]
African unspecified UKB
PSS000981 Cases were individuals with colorectal cancer based on self-reporting at the baseline (Coding IDs: 10,221,023), primary cause of death (ICD-10) from the death registry (Coding IDsC180,C182,C183,C184,C185,C186,C187,C188,C189), secondary cause of death (ICD-10) from the death registry (Coding IDs: C180,C182,C183,C184,C185,C186,C187,C188,C189), type of cancer (ICD-10) from the cancer registry (Coding IDs: C18,C180,C181,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375, 153,154,1530,1531,1532,1533,1534,1535,1536,1537,1538,1539,1540,1541,1 548,2303,2304), primary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), primary diagnoses (ICD-9) from hopsitalization records (Coding IDs: 153,154,1530,1532,1533,1534,1536,1537,1539,1540,1541), secondary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), secondary diagnoses (ICD-9) from hospitialization records (Coding IDs: 153,153,154,1532,1533,1541). Of the total number of cases and controls, 76 were carriers of a pathogenic or likely pathogenic variant in any of the following genes: MLH1, MSH2, MSH6 and PMS2.
[
  • 303 cases
  • , 45,233 controls
]
European UKB
PSS000981 Cases were individuals with colorectal cancer based on self-reporting at the baseline (Coding IDs: 10,221,023), primary cause of death (ICD-10) from the death registry (Coding IDsC180,C182,C183,C184,C185,C186,C187,C188,C189), secondary cause of death (ICD-10) from the death registry (Coding IDs: C180,C182,C183,C184,C185,C186,C187,C188,C189), type of cancer (ICD-10) from the cancer registry (Coding IDs: C18,C180,C181,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375, 153,154,1530,1531,1532,1533,1534,1535,1536,1537,1538,1539,1540,1541,1 548,2303,2304), primary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), primary diagnoses (ICD-9) from hopsitalization records (Coding IDs: 153,154,1530,1532,1533,1534,1536,1537,1539,1540,1541), secondary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), secondary diagnoses (ICD-9) from hospitialization records (Coding IDs: 153,153,154,1532,1533,1541). Of the total number of cases and controls, 76 were carriers of a pathogenic or likely pathogenic variant in any of the following genes: MLH1, MSH2, MSH6 and PMS2.
[
  • 6 cases
  • , 993 controls
]
African unspecified UKB
PSS000981 Cases were individuals with colorectal cancer based on self-reporting at the baseline (Coding IDs: 10,221,023), primary cause of death (ICD-10) from the death registry (Coding IDsC180,C182,C183,C184,C185,C186,C187,C188,C189), secondary cause of death (ICD-10) from the death registry (Coding IDs: C180,C182,C183,C184,C185,C186,C187,C188,C189), type of cancer (ICD-10) from the cancer registry (Coding IDs: C18,C180,C181,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375, 153,154,1530,1531,1532,1533,1534,1535,1536,1537,1538,1539,1540,1541,1 548,2303,2304), primary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), primary diagnoses (ICD-9) from hopsitalization records (Coding IDs: 153,154,1530,1532,1533,1534,1536,1537,1539,1540,1541), secondary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), secondary diagnoses (ICD-9) from hospitialization records (Coding IDs: 153,153,154,1532,1533,1541). Of the total number of cases and controls, 76 were carriers of a pathogenic or likely pathogenic variant in any of the following genes: MLH1, MSH2, MSH6 and PMS2.
[
  • 3 cases
  • , 1,216 controls
]
Asian unspecified UKB
PSS000981 Cases were individuals with colorectal cancer based on self-reporting at the baseline (Coding IDs: 10,221,023), primary cause of death (ICD-10) from the death registry (Coding IDsC180,C182,C183,C184,C185,C186,C187,C188,C189), secondary cause of death (ICD-10) from the death registry (Coding IDs: C180,C182,C183,C184,C185,C186,C187,C188,C189), type of cancer (ICD-10) from the cancer registry (Coding IDs: C18,C180,C181,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375, 153,154,1530,1531,1532,1533,1534,1535,1536,1537,1538,1539,1540,1541,1 548,2303,2304), primary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), primary diagnoses (ICD-9) from hopsitalization records (Coding IDs: 153,154,1530,1532,1533,1534,1536,1537,1539,1540,1541), secondary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), secondary diagnoses (ICD-9) from hospitialization records (Coding IDs: 153,153,154,1532,1533,1541). Of the total number of cases and controls, 76 were carriers of a pathogenic or likely pathogenic variant in any of the following genes: MLH1, MSH2, MSH6 and PMS2.
[
  • 3 cases
  • , 1,050 controls
]
Not reported UKB
PSS004124
[
  • 279 cases
  • , 6,218 controls
]
African unspecified UKB
PSS004125
[
  • 24 cases
  • , 1,680 controls
]
East Asian UKB
PSS004126
[
  • 2,245 cases
  • , 22,660 controls
]
European non-white British ancestry UKB
PSS004127
[
  • 330 cases
  • , 7,501 controls
]
South Asian UKB
PSS004128
[
  • 6,501 cases
  • , 60,924 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004129
[
  • 235 cases
  • , 6,262 controls
]
African unspecified UKB
PSS004130
[
  • 54 cases
  • , 1,650 controls
]
East Asian UKB
PSS004131
[
  • 1,301 cases
  • , 23,604 controls
]
European non-white British ancestry UKB
PSS004132
[
  • 333 cases
  • , 7,498 controls
]
South Asian UKB
PSS004133
[
  • 3,290 cases
  • , 64,135 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS000113 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): 21041 - 21049, 21051, 21052, and 21060
[
  • 5,895 cases
  • , 410,354 controls
]
,
46.0 % Male samples
Mean = 58.0 years European GERA, UKB