Gene: CDKN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894094
rs104894094
CDKN2A
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780

1995
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome. 26381259

2015
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR Functional reassessment of P16 variants using a transfection-based assay. 10389768

1999
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309

2016
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR Germline p16 mutations in familial melanoma. 7987387

1994
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. 19260062

2009
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.800 CausalMutation CLINVAR Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. 26775776

2016
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: 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: rs1800586
rs1800586
CDKN2A
A 0.700 CausalMutation CLINVAR Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma. 20093296

2010
dbSNP: rs1800586
rs1800586
CDKN2A
A 0.700 CausalMutation CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309

2016
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: 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 Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. 21150883

2011
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: rs45476696
rs45476696
CDKN2A
A 0.700 GeneticVariation CLINVAR Germline splicing mutations of CDKN2A predispose to melanoma. 14508519

2003
dbSNP: rs587776716
rs587776716
CDKN2A
A 0.700 CausalMutation CLINVAR

dbSNP: rs749714198
rs749714198
CDKN2A
A 0.700 GeneticVariation CLINVAR

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 Novel CDKN2A mutation detected in Spanish melanoma pedigree. 20653773

2010
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 Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309

2016