DisGeNET - a database of gene-disease associations

Hereditary Melanoma, C1512419

Variant: rs104894094 ×

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:

rs104894094

CDKN2A

0.700

CausalMutation

CLINVAR

Classifying variants of CDKN2A using computational and laboratory studies.

21462282

2011

dbSNP:

rs104894094

CDKN2A

0.700

CausalMutation

CLINVAR

Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.

21801156

2011

dbSNP:

rs104894094

CDKN2A

0.700

CausalMutation

CLINVAR

Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.

20340136

2010

dbSNP:

rs104894094

CDKN2A

0.700

CausalMutation

CLINVAR

INK4/ARF germline alterations in pancreatic cancer patients.

14679123

2004

dbSNP:

rs104894094

CDKN2A

0.700

CausalMutation

CLINVAR

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

15146471

2004

dbSNP:

rs104894094

CDKN2A

0.700

CausalMutation

CLINVAR

High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.

11807902

2002

dbSNP:

rs104894094

CDKN2A

0.700

CausalMutation

CLINVAR

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.

10869234

2000