Variant: rs137854452 

    present in Gene: ELN
    present in Chromosome: 7
    Position on Chromosome: 74056680
    Alleles of this Variant: C/T

rs137854452 in ELN gene and Supravalvular aortic stenosis PMID 9215670 1997 Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

PMID 11175284 2000 Elastin: mutational spectrum in supravalvular aortic stenosis.