DisGeNET - a database of gene-disease associations

Hereditary Melanoma, C1512419

Variant: rs1131691187 ×

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:

rs1131691187

CDKN2A

0.700

CausalMutation

CLINVAR

Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome.

26892650

2016

dbSNP:

rs1131691187

CDKN2A

0.700

CausalMutation

CLINVAR

CDKN2A/CDK4 molecular study on 155 Italian subjects with familial and/or primary multiple melanoma.

18363633

2008

dbSNP:

rs1131691187

CDKN2A

0.700

CausalMutation

CLINVAR

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

16905682

2007

dbSNP:

rs1131691187

CDKN2A

0.700

CausalMutation

CLINVAR

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

15146471

2004