DisGeNET - a database of gene-disease associations

Hereditary Melanoma, C1512419

Variant: rs1060501266 ×

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:

rs1060501266

CDKN2A

0.700

GeneticVariation

CLINVAR

Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.

22841127

2012

dbSNP:

rs1060501266

CDKN2A

0.700

GeneticVariation

CLINVAR

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

16905682

2007

dbSNP:

rs1060501266

CDKN2A

0.700

GeneticVariation

CLINVAR

CDKN2A: the IVS2-105A/G intronic mutation found in an Italian patient affected by eight primary melanomas.

15009729

2004

dbSNP:

rs1060501266

CDKN2A

0.700

GeneticVariation

CLINVAR

A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.

11726555

2001