SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12913975
rs12913975
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation BEFREE We found the GG genotype of SMAD6: rs12913975 and TT genotype of INHBC: rs4760259 to be associated with risk of brain metastasis in patients with NSCLC. 23284751 2012
dbSNP: rs12913975
rs12913975
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0220650
Disease:
Metastatic malignant neoplasm to brain 		0.010 GeneticVariation BEFREE We found the GG genotype of SMAD6: rs12913975 and TT genotype of INHBC: rs4760259 to be associated with risk of brain metastasis in patients with NSCLC. 23284751 2012
dbSNP: rs387907283
rs387907283
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3542024
Disease:
AORTIC VALVE DISEASE 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387907284
rs387907284
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3542024
Disease:
AORTIC VALVE DISEASE 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1064793003
rs1064793003
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C4479677
Disease:
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO 		T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1085307122
rs1085307122
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C4479677
Disease:
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO 		C 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1246889300
rs1246889300
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3887892
Disease:
Aortic Valve Disease 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1246889300
rs1246889300
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3542024
Disease:
AORTIC VALVE DISEASE 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1395007983
rs1395007983
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3887892
Disease:
Aortic Valve Disease 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1419095990
rs1419095990
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3887892
Disease:
Aortic Valve Disease 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567092020
rs1567092020
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3887892
Disease:
Aortic Valve Disease 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1567092071
rs1567092071
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3542024
Disease:
AORTIC VALVE DISEASE 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567092071
rs1567092071
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3887892
Disease:
Aortic Valve Disease 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs761888345
rs761888345
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C4479677
Disease:
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO 		T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs768542939
rs768542939
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3887892
Disease:
Aortic Valve Disease 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs900988907
rs900988907
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3887892
Disease:
Aortic Valve Disease 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs12594720
rs12594720
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0007102
Disease:
Malignant tumor of colon 		C 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12594720
rs12594720
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0009404
Disease:
Colorectal Neoplasms 		C 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12594720
rs12594720
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C2677123
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		C 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12594720
rs12594720
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3554460
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		C 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12594720
rs12594720
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		C 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12594720
rs12594720
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0346629
Disease:
Malignant neoplasm of large intestine 		C 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12594720
rs12594720
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0009402
Disease:
Colorectal Carcinoma 		C 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12594720
rs12594720
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		C 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12594720
rs12594720
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C1302401
Disease:
Adenoma of large intestine 		C 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019