ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Supravalvular aortic stenosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503030
rs727503030
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003499
Disease:
Supravalvular aortic stenosis 		A 0.700 GeneticVariation CLINVAR Elastin: mutational spectrum in supravalvular aortic stenosis. 11175284 2000
dbSNP: rs727503030
rs727503030
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003499
Disease:
Supravalvular aortic stenosis 		A 0.700 GeneticVariation CLINVAR Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 9215670 1997
dbSNP: rs727503030
rs727503030
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003499
Disease:
Supravalvular aortic stenosis 		A 0.700 CausalMutation CLINVAR