DisGeNET - a database of gene-disease associations

Pendred's syndrome, C0271829

Variant: rs1057517000 ×

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:

rs1057517000

rs1057517000

SLC26A4

A

0.700

GeneticVariation

CLINVAR

A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.

2013

dbSNP:

rs1057517000

rs1057517000

SLC26A4

T

0.700

GeneticVariation

CLINVAR