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: rs727503783
rs727503783
Entrez Id: 2006;107986809
Gene Symbol: ELN;ELN-AS1
ELN;ELN-AS1
CUI: C0003499
Disease:
Supravalvular aortic stenosis 		C 0.700 CausalMutation CLINVAR Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. 9215671 1997