DisGeNET - a database of gene-disease associations

Bicuspid aortic valve, C0149630

Variant: rs17290301 ×

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:

rs17290301

rs17290301

EGFR

0.010

GeneticVariation

BEFREE

A significant association was observed between an in silico-predicted benign EGFR intronic variant (rs17290301) and BAV.

2016