DisGeNET - a database of gene-disease associations

Deafness, Autosomal Dominant 13, C1866095

Variant: rs121912947 ×

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:

rs121912947

rs121912947

COL11A2

0.800

GeneticVariation

UNIPROT

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

1999

dbSNP:

rs121912947

rs121912947

COL11A2

A

0.800

CausalMutation

CLINVAR