Gene: CDKN2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 GeneticVariation CLINVAR The p16INK4a/CDKN2A tumor suppressor and its relatives. 9823374

1998
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 GeneticVariation CLINVAR Role of the CDKN2A locus in patients with multiple primary melanomas. 15860862

2005
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 GeneticVariation CLINVAR Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma. 21893440

2011
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 GeneticVariation CLINVAR Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682

2007
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 GeneticVariation CLINVAR Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer. 19571771

2009
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 GeneticVariation CLINVAR CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. 10874641

1999
dbSNP: rs104894099
rs104894099
CDKN2A
C 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
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 GeneticVariation CLINVAR A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families. 12700603

2003
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
T 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
T 0.700 GeneticVariation CLINVAR CDKN2A germline mutations in individuals with cutaneous malignant melanoma. 17218939

2007
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
T 0.700 GeneticVariation CLINVAR The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy. 17992122

2007
dbSNP: rs1131691186
rs1131691186
CDKN2A
T 0.700 GeneticVariation CLINVAR Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. 16234564

2005
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