DisGeNET - a database of gene-disease associations

Familial Atypical Mole Melanoma Syndrome, C2314896

Variant: rs768477694 ×

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:

rs768477694

rs768477694

CDK4

0.010

GeneticVariation

BEFREE

In one family where the proband had a P48L mutation in CDKN2A exon 1, the DNS phenotype was studied in detail.

1999