Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876658534
rs876658534
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AA 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs876658534
rs876658534
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AA 0.700 GeneticVariation CLINVAR Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK. 21325014

2011
dbSNP: rs876658534
rs876658534
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AA 0.700 GeneticVariation CLINVAR CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma. 18983535

2008
dbSNP: rs876658534
rs876658534
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AA 0.700 GeneticVariation CLINVAR Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682

2007
dbSNP: rs876658534
rs876658534
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AA 0.700 GeneticVariation CLINVAR Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families. 15150307

2004
dbSNP: rs876658534
rs876658534
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AA 0.700 GeneticVariation CLINVAR Geographical variation in the penetrance of CDKN2A mutations for melanoma. 12072543

2002
dbSNP: rs876658534
rs876658534
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AA 0.700 GeneticVariation CLINVAR Mutations in the INK4a/ARF melanoma susceptibility locus functionally impair p14ARF. 11518711

2001
dbSNP: rs876658534
rs876658534
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AA 0.700 GeneticVariation CLINVAR The p16INK4a/CDKN2A tumor suppressor and its relatives. 9823374

1998
dbSNP: rs876658534
rs876658534
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AA 0.700 GeneticVariation CLINVAR Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228

1998