ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503024
rs727503024
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003499
Disease:
Supravalvular aortic stenosis
T 0.700 CausalMutation CLINVAR