DisGeNET - a database of gene-disease associations

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder), C2675750

Variant: rs767178508 ×

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:

rs767178508

GJB2

0.700

GeneticVariation

CLINVAR

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.

20022641

2010

dbSNP:

rs767178508

GJB2

0.700

GeneticVariation

CLINVAR

A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness.

14676473

2004

dbSNP:

rs767178508

GJB2

0.700

GeneticVariation

CLINVAR

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

14985372

2004