DisGeNET - a database of gene-disease associations

Pendred's syndrome, C0271829

Variant: rs397516420 ×

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:

rs397516420

SLC26A4 ; SLC26A4-AS1

0.700

CausalMutation

CLINVAR

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

29196752

2017

dbSNP:

rs397516420

SLC26A4 ; SLC26A4-AS1

0.700

CausalMutation

CLINVAR

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

26969326

2016

dbSNP:

rs397516420

SLC26A4 ; SLC26A4-AS1

0.700

GeneticVariation

CLINVAR