Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75621460
rs75621460
TGFB1
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		A 0.700 GeneticVariation GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745

2019
dbSNP: rs75621460
rs75621460
TGFB1
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		A 0.700 GeneticVariation GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745

2019
dbSNP: rs75621460
rs75621460
TGFB1
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		A 0.700 GeneticVariation GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745

2019
dbSNP: rs56254331
rs56254331
TGFB1 ; CCDC97
CUI: C0018965
Disease: Hematuria
Hematuria 		A 0.700 GeneticVariation GWASCAT Sequence variants associating with urinary biomarkers. 30476138

2019
dbSNP: rs11466334
rs11466334
TGFB1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of type 2 diabetes in Africa. 31049640

2019
dbSNP: rs73045269
rs73045269
TGFB1 ; CCDC97
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018
dbSNP: rs4803455
rs4803455
TGFB1
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018
dbSNP: rs2288874
rs2288874
TGFB1
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018
dbSNP: rs1800470
rs1800470
TGFB1
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576

2018
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576

2018
dbSNP: rs1555755308
rs1555755308
TGFB1
CUI: C4748708
Disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 		A 0.700 GeneticVariation CLINVAR Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. 29483653

2018
dbSNP: rs1555755242
rs1555755242
TGFB1
CUI: C4748708
Disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 		A 0.700 GeneticVariation CLINVAR Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. 29483653

2018
dbSNP: rs1336387628
rs1336387628
TGFB1
CUI: C4748708
Disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 		G 0.700 GeneticVariation CLINVAR Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. 29483653

2018
dbSNP: rs12980942
rs12980942
TGFB1
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018
dbSNP: rs8108632
rs8108632
TGFB1
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease. 28714974

2017
dbSNP: rs8108632
rs8108632
TGFB1
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975

2017
dbSNP: rs11466328
rs11466328
TGFB1
CUI: C0151526
Disease: Premature Birth
Premature Birth 		G 0.700 GeneticVariation GWASCAT Genetic Associations with Gestational Duration and Spontaneous Preterm Birth. 28877031

2017
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.810 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994

2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.810 GeneticVariation GWASCAT Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. 26965516

2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.710 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994

2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		G 0.710 GeneticVariation GWASCAT Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. 26965516

2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		A 0.700 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994

2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		G 0.700 GeneticVariation GWASCAT Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. 26965516

2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		A 0.700 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994

2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		G 0.700 GeneticVariation GWASCAT Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. 26965516

2016