SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
Disease: Familial thoracic aortic aneurysm and aortic dissection ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566999610
rs1566999610
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		G 0.700 GeneticVariation CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029 2019