DisGeNET - a database of gene-disease associations

Pendred's syndrome, C0271829

Variant: rs1057516243 ×

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:

rs1057516243

SLC26A4

0.700

GeneticVariation

CLINVAR

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

25372295

2014

dbSNP:

rs1057516243

SLC26A4

0.700

GeneticVariation

CLINVAR

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

24599119

2014

dbSNP:

rs1057516243

SLC26A4

0.700

GeneticVariation

CLINVAR

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.

23918157

2013