DisGeNET - a database of gene-disease associations

MELANOMA-PANCREATIC CANCER SYNDROME, C1838547

Variant: rs1800586 ×

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:

rs1800586

CDKN2A

0.700

CausalMutation

CLINVAR

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

26681309

2016

dbSNP:

rs1800586

CDKN2A

0.700

CausalMutation

CLINVAR

Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.

20093296

2010

dbSNP:

rs1800586

CDKN2A

0.700

CausalMutation

CLINVAR

Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma.

9916806

1999