DisGeNET - a database of gene-disease associations

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder), C2675750

Variant: rs397516873 ×

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:

rs397516873

rs397516873

GJB2

G

0.700

GeneticVariation

CLINVAR

Vestibular dysfunction in DFNB1 deafness.

2011

dbSNP:

rs397516873

rs397516873

GJB2

G

0.700

GeneticVariation

CLINVAR

GJB2 mutations and degree of hearing loss: a multicenter study.

2005