DisGeNET - a database of gene-disease associations

Waardenburg Syndrome, Type 4b, C2750457

Variant: rs745795470 ×

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:

rs745795470

EDN3

0.700

GeneticVariation

CLINVAR

Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

27018795

2016

dbSNP:

rs745795470

EDN3

0.700

GeneticVariation

CLINVAR

Review and update of mutations causing Waardenburg syndrome.

20127975

2010

dbSNP:

rs745795470

EDN3

0.700

CausalMutation

CLINVAR