Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854452
rs137854452
ELN
T 0.700 CausalMutation CLINVAR Elastin: mutational spectrum in supravalvular aortic stenosis. 11175284

2000
dbSNP: rs137854452
rs137854452
ELN
T 0.700 CausalMutation CLINVAR Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 9215670

1997