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: rs387907283
rs387907283
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3542024
Disease:
AORTIC VALVE DISEASE 2
0.800 GeneticVariation UNIPROT
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: rs387907284
rs387907284
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3542024
Disease:
AORTIC VALVE DISEASE 2
0.800 GeneticVariation UNIPROT
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: rs1338294058
rs1338294058
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C4479496
Disease:
CRANIOSYNOSTOSIS 7
0.700 GeneticVariation UNIPROT
dbSNP: rs1374099442
rs1374099442
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C4479496
Disease:
CRANIOSYNOSTOSIS 7
0.700 GeneticVariation UNIPROT
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: 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: rs1440372
rs1440372
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0205682
Disease:
Waist-Hip Ratio
T 0.700 GeneticVariation GWASCAT New genetic loci link adipose and insulin biology to body fat distribution. 25673412 2015
dbSNP: rs570279865
rs570279865
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C4479496
Disease:
CRANIOSYNOSTOSIS 7
0.700 GeneticVariation UNIPROT Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. 27606499 2016
dbSNP: rs761888345
rs761888345
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C4479496
Disease:
CRANIOSYNOSTOSIS 7
0.700 GeneticVariation UNIPROT Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. 27606499 2016
dbSNP: rs1440372
rs1440372
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0205682
Disease:
Waist-Hip Ratio
C 0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
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