DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs1554656253 ×

Source: CLINVAR ×

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:

rs1554656253

CDKN2A

0.700

CausalMutation

CLINVAR

From sporadic atypical nevi to familial melanoma: risk analysis for melanoma in sporadic atypical nevus patients.

17276542

2007

dbSNP:

rs1554656253

CDKN2A

0.700

CausalMutation

CLINVAR

Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.

16234564

2005

dbSNP:

rs1554656253

CDKN2A

0.700

CausalMutation

CLINVAR

CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas.

9699728

1998