Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516433
rs397516433
ELN
G 0.700 CausalMutation CLINVAR Domains 16 and 17 of tropoelastin in elastic fibre formation. 17037986

2007
dbSNP: rs397516433
rs397516433
ELN
G 0.700 CausalMutation CLINVAR Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. 10190324

1999
dbSNP: rs397516433
rs397516433
ELN
G 0.700 CausalMutation CLINVAR Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 9215670

1997