DisGeNET - a database of gene-disease associations

Supravalvular aortic stenosis, C0003499

Variant: rs727503030 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs727503030

ELN

0.700

GeneticVariation

CLINVAR

Elastin: mutational spectrum in supravalvular aortic stenosis.

11175284

2000

dbSNP:

rs727503030

ELN

0.700

GeneticVariation

CLINVAR

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

9215670

1997

dbSNP:

rs727503030

ELN

0.700

CausalMutation

CLINVAR