DisGeNET - a database of gene-disease associations

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder), C2675750

Variant: rs1057517519 ×

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:

rs1057517519

GJB2

0.700

GeneticVariation

CLINVAR

Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.

24256046

2014

dbSNP:

rs1057517519

GJB2

0.700

GeneticVariation

CLINVAR

New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.

25401782

2014

dbSNP:

rs1057517519

GJB2

0.700

GeneticVariation

CLINVAR

Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.

16217030

2005

dbSNP:

rs1057517519

GJB2

0.700

GeneticVariation

CLINVAR

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

16380907

2005

dbSNP:

rs1057517519

GJB2

0.700

GeneticVariation

CLINVAR

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

11313763

2001