DisGeNET - a database of gene-disease associations

Hereditary Melanoma, C1512419

Variant: rs730881675 ×

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:

rs730881675

CDKN2A

0.700

CausalMutation

CLINVAR

Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

21150883

2011

dbSNP:

rs730881675

CDKN2A

0.700

CausalMutation

CLINVAR

Regulatory mechanisms of tumor suppressor P16(INK4A) and their relevance to cancer.

21619050

2011

dbSNP:

rs730881675

CDKN2A

0.700

CausalMutation

CLINVAR

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

15146471

2004

dbSNP:

rs730881675

CDKN2A

0.700

CausalMutation

CLINVAR

Prospective risk of cancer in CDKN2A germline mutation carriers.

15173226

2004

dbSNP:

rs730881675

CDKN2A

0.700

CausalMutation

CLINVAR

Geographical variation in the penetrance of CDKN2A mutations for melanoma.

12072543

2002

dbSNP:

rs730881675

CDKN2A

0.700

CausalMutation

CLINVAR

Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population.

8710906

1996

dbSNP:

rs730881675

CDKN2A

0.700

CausalMutation

CLINVAR

Mutational effects on the p16INK4a tumor suppressor protein.

7780957

1995

dbSNP:

rs730881675

CDKN2A

0.700

CausalMutation

CLINVAR

Rarity of somatic and germline mutations of the cyclin-dependent kinase 4 inhibitor gene, CDK4I, in melanoma.

7923152

1994