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

dbSNP: rs587776716
rs587776716
CDKN2A
A 0.700 CausalMutation CLINVAR

dbSNP: rs749714198
rs749714198
CDKN2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780

1995
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780

1995
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR Germline p16 mutations in familial melanoma. 7987387

1994
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR Germline p16 mutations in familial melanoma. 7987387

1994
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. 7987388

1994
dbSNP: rs730881675
rs730881675
CDKN2A
G 0.700 CausalMutation CLINVAR Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. 8710906

1996
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: 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
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: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR Functional reassessment of P16 variants using a transfection-based assay. 10389768

1999
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR Functional reassessment of P16 variants using a transfection-based assay. 10389768

1999
dbSNP: rs45476696
rs45476696
CDKN2A
A 0.700 GeneticVariation CLINVAR Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online. 10627132

1998
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234

2000
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: 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: 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 Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471

2004