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EFO_0001645
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breast cancer
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EFO_0001645
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PGS Catalog
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Polygenic Scores (PGS)
Polygenic Scores (PGS)
Filter PGS by Participant Ancestry
Individuals included in:
Any Stage [G, D, E]
All Stages combined [G + D + E]
Development [G, D]
- GWAS [G]
- Score development [D]
PGS Evaluation [E]
G
- Source of Variant Associations (
G
WAS)
D
- Score
D
evelopment/Training
E
- PGS
E
valuation
List of ancestries includes:
--
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Display options:
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Multi-ancestry data
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
Polygenic Score ID & Name
PGS Publication ID
(PGP)
Reported Trait
Mapped Trait(s)
(Ontology)
Number of Variants
Ancestry distribution
GWAS
Dev
Eval
Scoring File
(FTP Link)
PGS000517
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Breast cancer (female)
breast carcinoma
10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000517/ScoringFiles/PGS000517.txt.gz
PGS000518
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Breast cancer (female)
breast carcinoma
10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000518/ScoringFiles/PGS000518.txt.gz
PGS000553
(PRSWEB_PHECODE184.11_Phelan-LSASBOC_P_5e-08_UKB_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Malignant neoplasm of ovary
ovarian neoplasm
10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000553/ScoringFiles/PGS000553.txt.gz
PGS000630
(PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_P_5e-08_MGI_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Thyroid cancer
thyroid carcinoma
10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000630/ScoringFiles/PGS000630.txt.gz
PGS000631
(PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_P_5e-08_UKB_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Thyroid cancer
thyroid carcinoma
10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000631/ScoringFiles/PGS000631.txt.gz
PGS000642
(PRSWEB_PHECODE202.2_GWAS-Catalog-r2019-05-03-X202.2_PT_UKB_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Non-Hodgkin's lymphoma
non-Hodgkins lymphoma
10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000642/ScoringFiles/PGS000642.txt.gz
PGS000655
(NAFLD-10)
PGP000119
|
Namjou B
et al.
BMC Med (2019)
Non-alcoholic fatty liver disease
non-alcoholic fatty liver disease
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000655/ScoringFiles/PGS000655.txt.gz
PGS000784
(CC_Cervix_IV)
PGP000186
|
Kachuri L
et al.
Nat Commun (2020)
Cervical cancer
cervical carcinoma
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000784/ScoringFiles/PGS000784.txt.gz
PGS000867
(GRS10_Allergy)
PGP000213
|
Arabkhazaeli A
et al.
Pediatr Allergy Immunol (2017)
Allergy
allergic disease
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000867/ScoringFiles/PGS000867.txt.gz
PGS001267
(GBE_HC422)
PGP000244
|
Tanigawa Y
et al.
PLoS Genet (2022)
Ankylosing spondylitis
ankylosing spondylitis
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001267/ScoringFiles/PGS001267.txt.gz
PGS001268
(GBE_HC1242)
PGP000244
|
Tanigawa Y
et al.
PLoS Genet (2022)
Ankylosing spondylitis (time-to-event)
ankylosing spondylitis
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001268/ScoringFiles/PGS001268.txt.gz
PGS002234
(PRS10_NMR)
PGP000266
|
Chen LS
et al.
Pharmacogenomics (2018)
Nicotine metabolite ratio
nicotine metabolite ratio
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002234/ScoringFiles/PGS002234.txt.gz
PGS002290
(GRS10_PUA)
PGP000318
|
Gurung RL
et al.
J Clin Endocrinol Metab (2022)
Uric acid level
uric acid measurement
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002290/ScoringFiles/PGS002290.txt.gz
PGS002749
(PRS10_TKR)
PGP000362
|
Lacaze P
et al.
Arthritis Rheumatol (2022)
Total knee replacement
osteoarthritis, knee
,
total knee arthroplasty
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002749/ScoringFiles/PGS002749.txt.gz
PGS002794
(PRS_VTE)
PGP000375
|
Xie J
et al.
J Thromb Haemost (2022)
Venous thromboembolism
venous thromboembolism
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002794/ScoringFiles/PGS002794.txt.gz
PGS003330
(PRS-F8)
PGP000395
|
Valenti L
et al.
JHEP Rep (2022)
Factor VIII levels
factor VIII measurement
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003330/ScoringFiles/PGS003330.txt.gz
PGS003404
(wGRS)
PGP000421
|
Wang J
et al.
Arterioscler Thromb Vasc Biol (2016)
LDL cholesterol
low density lipoprotein cholesterol measurement
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003404/ScoringFiles/PGS003404.txt.gz
PGS003488
(PRS_IL12)
PGP000451
|
Al-Janabi A
et al.
J Invest Dermatol (2023)
General atopic disease (IL-12 related variants)
allergic disease
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003488/ScoringFiles/PGS003488.txt.gz
PGS003757
(wGRS_SLE_HLA)
PGP000475
|
Kwon YC
et al.
Arthritis Rheumatol (2023)
Systemic lupus erythematosus
systemic lupus erythematosus
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003757/ScoringFiles/PGS003757.txt.gz
PGS004286
(GenoBoost_alzheimer_s_disease_1)
PGP000546
|
Ohta R
et al.
Nat Commun (2024)
Alzheimer's disease
Alzheimer disease
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004286/ScoringFiles/PGS004286.txt.gz
PGS000075
(CC_Endo)
PGP000050
|
Graff RE
et al.
Nat Commun (2021)
Endometrial cancer
endometrial carcinoma
9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000075/ScoringFiles/PGS000075.txt.gz
PGS000159
(cGRS_Pancreatic)
PGP000075
|
Shi Z
et al.
Cancer Med (2019)
Pancreatic cancer
pancreatic carcinoma
9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000159/ScoringFiles/PGS000159.txt.gz
PGS000192
(GS9)
PGP000079
|
Kathiresan S
et al.
N Engl J Med (2008)
Cholesterol
low density lipoprotein cholesterol measurement
,
high density lipoprotein cholesterol measurement
9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000192/ScoringFiles/PGS000192.txt.gz
PGS000416
(PRSWEB_PHECODE172.1_C43_P_5e-08_MGI_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history)
melanoma
9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000416/ScoringFiles/PGS000416.txt.gz
PGS000418
(PRSWEB_PHECODE172.1_C43_PT_MGI_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Melanomas of skin (diagnosis or history)
melanoma
9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000418/ScoringFiles/PGS000418.txt.gz
PGS000468
(PRSWEB_PHECODE172.22_cSCC-Chahal_PT_UKB_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Squamous cell carcinoma
squamous cell carcinoma
9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000468/ScoringFiles/PGS000468.txt.gz
PGS000521
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_MGI_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Breast cancer (female)
breast carcinoma
9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000521/ScoringFiles/PGS000521.txt.gz
PGS000595
(PRSWEB_PHECODE187.2_20001-1045_P_5e-08_MGI_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Malignant neoplasm of testis
testicular carcinoma
9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000595/ScoringFiles/PGS000595.txt.gz
PGS000745
(PRS_melanoma_telomere.pathway)
PGP000151
|
Cust AE
et al.
J Invest Dermatol (2018)
Melanoma
melanoma
9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000745/ScoringFiles/PGS000745.txt.gz
PGS000776
(GRS9_Cirr)
PGP000180
|
Innes H
et al.
Gastroenterology (2020)
Cirrhosis
cirrhosis of liver
9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000776/ScoringFiles/PGS000776.txt.gz
PGS000786
(CC_Endo_IV)
PGP000186
|
Kachuri L
et al.
Nat Commun (2020)
Endometrial cancer
endometrial carcinoma
9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000786/ScoringFiles/PGS000786.txt.gz
PGS000946
(GBE_HC713)
PGP000244
|
Tanigawa Y
et al.
PLoS Genet (2022)
Unspecified dementia (time-to-event)
dementia
9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000946/ScoringFiles/PGS000946.txt.gz
PGS001081
(GBE_INI23027)
PGP000244
|
Tanigawa Y
et al.
PLoS Genet (2022)
JC VP1 antigen for Human Polyomavirus JCV
blood protein amount
9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001081/ScoringFiles/PGS001081.txt.gz
PGS001300
(GBE_BIN21068)
PGP000244
|
Tanigawa Y
et al.
PLoS Genet (2022)
Celiac disease or gluten sensitivity, diagnosed
celiac disease
9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001300/ScoringFiles/PGS001300.txt.gz
PGS001385
(GBE_INI21051)
PGP000244
|
Tanigawa Y
et al.
PLoS Genet (2022)
Degree bothered by headaches in the last 3 months
health-related quality of life measurement
9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001385/ScoringFiles/PGS001385.txt.gz
PGS001515
(GBE_INI3456)
PGP000244
|
Tanigawa Y
et al.
PLoS Genet (2022)
Number of cigarettes currently smoked daily (current cigarette smokers)
cigarettes per day measurement
9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001515/ScoringFiles/PGS001515.txt.gz
PGS002303
(PRS9_DLBCL)
PGP000328
|
Choi J
et al.
Int J Cancer (2020)
Diffuse large B-cell lymphoma
diffuse large B-cell lymphoma
9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002303/ScoringFiles/PGS002303.txt.gz
PGS003025
(ExPRSweb_Hypertension_finngen-R4-I9_PT_UKB_20211120)
PGP000393
|
Ma Y
et al.
Am J Hum Genet (2022)
Hypertension
hypertension
9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003025/ScoringFiles/PGS003025.txt.gz
PGS003026
(ExPRSweb_Hypertension_finngen-R4-I9_PLINK_UKB_20211120)
PGP000393
|
Ma Y
et al.
Am J Hum Genet (2022)
Hypertension
hypertension
9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003026/ScoringFiles/PGS003026.txt.gz
PGS003165
(ExPRSweb_VitB12_Wood-et-al-2013-1000G_PT_MGI_20211120)
PGP000393
|
Ma Y
et al.
Am J Hum Genet (2022)
Vitamin B12
vitamin B12 measurement
9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003165/ScoringFiles/PGS003165.txt.gz
PGS003166
(ExPRSweb_VitB12_Wood-et-al-2013-1000G_PLINK_MGI_20211120)
PGP000393
|
Ma Y
et al.
Am J Hum Genet (2022)
Vitamin B12
vitamin B12 measurement
9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003166/ScoringFiles/PGS003166.txt.gz
PGS005248
(PGS4_QBB_9SNP)
PGP000743
|
Ismail Umlai UK
et al.
J Lipid Res (2025)
LDL-C levels
low density lipoprotein cholesterol measurement
9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005248/ScoringFiles/PGS005248.txt.gz
PGS000450
(PRSWEB_PHECODE172.21_20001-1073_PT_MGI_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Basal cell carcinoma
basal cell carcinoma
8
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000450/ScoringFiles/PGS000450.txt.gz
PGS000543
(PRSWEB_PHECODE184_C3-FEMALE-GENITAL_PT_MGI_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Cancer of other female genital organs
female reproductive system neoplasm
8
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000543/ScoringFiles/PGS000543.txt.gz
PGS000626
(PRSWEB_PHECODE193_20001-1065_PT_MGI_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Thyroid cancer
thyroid carcinoma
8
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000626/ScoringFiles/PGS000626.txt.gz
PGS000629
(PRSWEB_PHECODE193_C73_PT_MGI_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Thyroid cancer
thyroid carcinoma
8
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000629/ScoringFiles/PGS000629.txt.gz
PGS000632
(PRSWEB_PHECODE193_GWAS-Catalog-r2019-05-03-X193_PT_MGI_20200608)
PGP000118
|
Fritsche LG
et al.
Am J Hum Genet (2020)
Thyroid cancer
thyroid carcinoma
8
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000632/ScoringFiles/PGS000632.txt.gz
PGS000852
(T2D_Insulin_Secretion_1)
PGP000211
|
Aly DM
et al.
Nat Genet (2021)
Type 2 diabetes (based on SNPs associated with insulin secretion)
type 2 diabetes mellitus
8
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000852/ScoringFiles/PGS000852.txt.gz
PGS002245
(PGS8_LF)
PGP000273
|
Haas ME
et al.
Cell Genom (2021)
Liver fat (MRI-derived)
liver fat measurement
8
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002245/ScoringFiles/PGS002245.txt.gz
PGS002277
(pPS_Insulin_secretion_1)
PGP000305
|
Siddiqui MK
et al.
Diabetologia (2022)
Type 2 diabetes (based on SNPs associated with insulin secretion)
type 2 diabetes mellitus
8
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002277/ScoringFiles/PGS002277.txt.gz
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