DisGeNET - a database of gene-disease associations

WAARDENBURG SYNDROME, TYPE IIA, C1860339

Variant: rs149617956 ×

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:

rs149617956

MITF

0.700

CausalMutation

CLINVAR

Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.

27473757

2016

dbSNP:

rs149617956

MITF

0.700

CausalMutation

CLINVAR

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

23167872

2013

dbSNP:

rs149617956

MITF

0.700

CausalMutation

CLINVAR

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

23787126

2013

dbSNP:

rs149617956

MITF

0.700

CausalMutation

CLINVAR

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

22012259

2011

dbSNP:

rs149617956

MITF

0.700

CausalMutation

CLINVAR

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.

22080950

2011