DisGeNET - a database of gene-disease associations

melanoma, C0025202

Variant: rs755927351 ×

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:

rs755927351

rs755927351

CDKN2A

0.010

GeneticVariation

BEFREE

Melanomas from 10 separate patients (4.9%) were positive for IDH1 R132C (nine) or R132S (one).

2018