Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894109
rs104894109
A 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011

dbSNP: rs104894109
rs104894109
A 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010

dbSNP: rs104894109
rs104894109
A 0.700 CausalMutation CLINVAR New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment. 17492760

2007

dbSNP: rs104894109
rs104894109
A 0.700 CausalMutation CLINVAR Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. 16234564

2005

dbSNP: rs104894109
rs104894109
A 0.700 CausalMutation CLINVAR Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees. 16214921

2005

dbSNP: rs104894109
rs104894109
A 0.700 CausalMutation CLINVAR Genetic susceptibility in familial melanoma from northeastern Italy. 15235029

2004

dbSNP: rs104894109
rs104894109
A 0.700 CausalMutation CLINVAR Geographical variation in the penetrance of CDKN2A mutations for melanoma. 12072543

2002

dbSNP: rs104894109
rs104894109
A 0.700 CausalMutation CLINVAR Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228

1998

dbSNP: rs104894109
rs104894109
A 0.700 CausalMutation CLINVAR CDKN2A mutations in multiple primary melanomas. 9516223

1998