Gene: CDKN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
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: rs45476696
rs45476696
CDKN2A
A 0.700 GeneticVariation CLINVAR Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. 21150883

2011
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 GeneticVariation CLINVAR Novel CDKN2A mutation detected in Spanish melanoma pedigree. 20653773

2010
dbSNP: rs1800586
rs1800586
CDKN2A
A 0.700 CausalMutation CLINVAR Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma. 20093296

2010
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 GeneticVariation CLINVAR Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy. 19799798

2009
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 Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. 19260062

2009
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma. 18983535

2008
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR CDKN2A germline mutations in individuals with cutaneous malignant melanoma. 17218939

2007
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability. 16169933

2006
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471

2004
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: rs45476696
rs45476696
CDKN2A
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: rs45476696
rs45476696
CDKN2A
A 0.700 GeneticVariation CLINVAR Germline splicing mutations of CDKN2A predispose to melanoma. 14508519

2003
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome. 11815963

2002
dbSNP: rs45476696
rs45476696
CDKN2A
A 0.700 GeneticVariation CLINVAR Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome. 11815963

2002
dbSNP: rs730881675
rs730881675
CDKN2A
G 0.700 CausalMutation CLINVAR Geographical variation in the penetrance of CDKN2A mutations for melanoma. 12072543

2002
dbSNP: rs104894097
rs104894097
CDKN2A
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: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR Functional reassessment of P16 variants using a transfection-based assay. 10389768

1999
dbSNP: rs1800586
rs1800586
CDKN2A
A 0.700 CausalMutation CLINVAR Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma. 9916806

1999
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR CDKN2A mutations in multiple primary melanomas. 9516223

1998
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. 9699728

1998