DisGeNET - a database of gene-disease associations

Hereditary Melanoma, C1512419

Variant: rs45476696 ×

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:

rs45476696

CDKN2A

0.700

CausalMutation

CLINVAR

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

25356972

2015

dbSNP:

rs45476696

CDKN2A

0.700

CausalMutation

CLINVAR

Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

21150883

2011

dbSNP:

rs45476696

CDKN2A

0.700

CausalMutation

CLINVAR

Influence of loss of function MC1R variants in genetic susceptibility of familial melanoma in Spain.

20539244

2010

dbSNP:

rs45476696

CDKN2A

0.700

CausalMutation

CLINVAR

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

20876876

2010

dbSNP:

rs45476696

CDKN2A

0.700

CausalMutation

CLINVAR

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

16905682

2007

dbSNP:

rs45476696

CDKN2A

0.700

CausalMutation

CLINVAR

CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF.

12853981

2003

dbSNP:

rs45476696

CDKN2A

0.700

CausalMutation

CLINVAR

Germline splicing mutations of CDKN2A predispose to melanoma.

14508519

2003

dbSNP:

rs45476696

CDKN2A

0.700

CausalMutation

CLINVAR

Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online.

10627132

1998