Gene: CDKN2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR

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

2005
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR Genetic susceptibility in familial melanoma from northeastern Italy. 15235029

2004
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR CDKN2A mutations in multiple primary melanomas. 9516223

1998
dbSNP: rs104894109
rs104894109
CDKN2A
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
CDKN2A
A 0.700 CausalMutation CLINVAR Geographical variation in the penetrance of CDKN2A mutations for melanoma. 12072543

2002
dbSNP: rs104894109
rs104894109
CDKN2A
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
CDKN2A
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
CDKN2A
A 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs1060501260
rs1060501260
CDKN2A
A 0.700 GeneticVariation CLINVAR Multiple primary tumors as an indicator for p16INK4a germline mutations in pancreatic cancer patients? 11075991

2000
dbSNP: rs1060501260
rs1060501260
CDKN2A
A 0.700 GeneticVariation CLINVAR Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. 8710906

1996
dbSNP: rs1060501260
rs1060501260
CDKN2A
A 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs1131691186
rs1131691186
CDKN2A
A 0.700 GeneticVariation CLINVAR CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment. 24659262

2014
dbSNP: rs1131691186
rs1131691186
CDKN2A
A 0.700 GeneticVariation CLINVAR Multiple primary melanoma revisited. 12001124

2002
dbSNP: rs121913381
rs121913381
CDKN2A
A 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs121913381
rs121913381
CDKN2A
A 0.700 GeneticVariation CLINVAR Structural basis for inhibition of the cyclin-dependent kinase Cdk6 by the tumour suppressor p16INK4a. 9751050

1998
dbSNP: rs121913381
rs121913381
CDKN2A
A 0.700 GeneticVariation CLINVAR Novel CDKN2A mutations detected in western Swedish families with hereditary malignant melanoma. 17255954

2007
dbSNP: rs121913381
rs121913381
CDKN2A
A 0.700 GeneticVariation CLINVAR Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients. 19690981

2010
dbSNP: rs121913386
rs121913386
CDKN2A
A 0.700 GeneticVariation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202

1996
dbSNP: rs121913386
rs121913386
CDKN2A
A 0.700 GeneticVariation CLINVAR p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma. 15140233

2004
dbSNP: rs121913386
rs121913386
CDKN2A
A 0.700 GeneticVariation CLINVAR Tumor suppressor p16INK4A: structural characterization of wild-type and mutant proteins by NMR and circular dichroism. 8755727

1996
dbSNP: rs121913386
rs121913386
CDKN2A
A 0.700 GeneticVariation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471

2004
dbSNP: rs121913386
rs121913386
CDKN2A
A 0.700 GeneticVariation CLINVAR The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy. 17992122

2007
dbSNP: rs121913386
rs121913386
CDKN2A
A 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011