Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894097
rs104894097
G 0.700 CausalMutation CLINVAR

dbSNP: rs587776716
rs587776716
A 0.700 CausalMutation CLINVAR

dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR

dbSNP: rs104894094
rs104894094
A 0.800 CausalMutation CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234

2000

dbSNP: rs104894099
rs104894099
C 0.700 GeneticVariation CLINVAR A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families. 12700603

2003

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015

dbSNP: rs104894098
rs104894098
T 0.700 CausalMutation CLINVAR Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. 7987388

1994

dbSNP: rs104894098
rs104894098
T 0.700 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015

dbSNP: rs104894097
rs104894097
G 0.700 GeneticVariation CLINVAR CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. 11556834

2001

dbSNP: rs104894097
rs104894097
G 0.700 GeneticVariation CLINVAR CDKN2A germline mutations in individuals with cutaneous malignant melanoma. 17218939

2007

dbSNP: rs104894097
rs104894097
G 0.700 GeneticVariation CLINVAR CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. 9699728

1998

dbSNP: rs104894098
rs104894098
T 0.700 CausalMutation CLINVAR CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma. 18983535

2008

dbSNP: rs104894097
rs104894097
G 0.700 GeneticVariation CLINVAR CDKN2A mutations in multiple primary melanomas. 9516223

1998

dbSNP: rs45476696
rs45476696
A 0.700 GeneticVariation CLINVAR CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF. 12853981

2003

dbSNP: rs104894094
rs104894094
A 0.800 CausalMutation CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309

2016

dbSNP: rs104894099
rs104894099
C 0.700 GeneticVariation CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309

2016

dbSNP: rs1800586
rs1800586
A 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: rs104894094
rs104894094
A 0.800 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011

dbSNP: rs104894097
rs104894097
G 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011

dbSNP: rs104894098
rs104894098
T 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011

dbSNP: rs104894099
rs104894099
C 0.700 GeneticVariation CLINVAR Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma. 21893440

2011

dbSNP: rs104894097
rs104894097
G 0.700 GeneticVariation CLINVAR Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 21801156

2011

dbSNP: rs104894097
rs104894097
G 0.700 GeneticVariation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471

2004

dbSNP: rs104894097
rs104894097
G 0.700 GeneticVariation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892

2013

dbSNP: rs104894098
rs104894098
T 0.700 CausalMutation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892

2013