DisGeNET - a database of gene-disease associations

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, C3538946

Variant: rs749013429 ×

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:

rs749013429

SLC26A4

0.700

GeneticVariation

CLINVAR

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

27246798

2016

dbSNP:

rs749013429

SLC26A4

0.700

GeneticVariation

CLINVAR

Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.

24105851

2014

dbSNP:

rs749013429

SLC26A4

0.700

CausalMutation

CLINVAR