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
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 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 Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome. 26381259

2015
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 Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
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, 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 A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234

2000
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 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: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
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
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: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375

2015
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR Novel CDKN2A mutations in Austrian melanoma patients. 26225579

2015
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 GeneticVariation CLINVAR Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom. 25780468

2014
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892

2013
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892

2013
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. 22841127

2012
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 GeneticVariation CLINVAR Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. 22841127

2012
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 21801156

2011
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. 21150883

2011