SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832942
Disease:
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832942
Disease:
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		A 0.700 CausalMutation CLINVAR