Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.810 GeneticVariation GWASDB Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286

2014
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.810 GeneticVariation GWASCAT Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286

2014
dbSNP: rs4803455
rs4803455
TGFB1
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.800 GeneticVariation GWASDB Genome-wide meta-analysis identifies new susceptibility loci for migraine. 23793025

2013
dbSNP: rs4803455
rs4803455
TGFB1
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.800 GeneticVariation GWASCAT Genome-wide meta-analysis identifies new susceptibility loci for migraine. 23793025

2013
dbSNP: rs104894721
rs104894721
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		A 0.740 CausalMutation CLINVAR

dbSNP: rs104894719
rs104894719
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		G 0.710 CausalMutation CLINVAR

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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		G 0.710 GeneticVariation GWASCAT Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286

2014
dbSNP: rs200482214
rs200482214
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		A 0.710 CausalMutation CLINVAR

dbSNP: rs281865484
rs281865484
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		T 0.710 CausalMutation CLINVAR

dbSNP: rs104894720
rs104894720
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs104894722
rs104894722
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs104894722
rs104894722
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs104894722
rs104894722
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs111033611
rs111033611
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		G 0.700 CausalMutation CLINVAR

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: 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: 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: 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: rs1336387628
rs1336387628
TGFB1
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1336387628
rs1336387628
TGFB1
CUI: C4748708
Disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1487082103
rs1487082103
TGFB1 ; B9D2
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.700 GeneticVariation UNIPROT