DisGeNET - a database of gene-disease associations

DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder), C2675750

Variant: rs80338943 ×

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:

rs80338943

GJB2

0.700

CausalMutation

CLINVAR

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

12505163

2003

dbSNP:

rs80338943

GJB2

0.700

CausalMutation

CLINVAR

Functional study of GJB2 in hereditary hearing loss.

12352684

2002

dbSNP:

rs80338943

GJB2

0.700

CausalMutation

CLINVAR

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

10501520

1999