Gene: CDKN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034265990
rs1034265990
CDKN2A
0.010 GeneticVariation BEFREE Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma. 30586141

2019
dbSNP: rs759763964
rs759763964
CDKN2A
0.010 GeneticVariation BEFREE We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. 23371019

2013
dbSNP: rs121913384
rs121913384
CDKN2A
0.010 GeneticVariation BEFREE A novel germline mutation p.E88X, associated with hereditary melanoma in two unrelated families, is described. 19523171

2009
dbSNP: rs1131691186
rs1131691186
CDKN2A
0.010 GeneticVariation BEFREE Our data show that the p.G23S mutation is an important cause of hereditary melanoma in Tuscany. 17992122

2007
dbSNP: rs771138120
rs771138120
CDKN2A
0.010 GeneticVariation BEFREE This mutation (replacement of Arg24 by Cys) was first found in patients with hereditary melanoma and renders Cdk4 insensitive to INK4 inhibitors. 11726500

2001
dbSNP: rs141798398
rs141798398
CDKN2A
T 0.700 CausalMutation CLINVAR Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. 28830827

2017
dbSNP: rs1554656411
rs1554656411
CDKN2A
A 0.700 CausalMutation CLINVAR Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway. 27804060

2017
dbSNP: rs878853650
rs878853650
CDKN2A
G 0.700 GeneticVariation CLINVAR Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma. 28592523

2017
dbSNP: rs104894099
rs104894099
CDKN2A
C 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: rs1131691187
rs1131691187
CDKN2A
C 0.700 CausalMutation CLINVAR Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome. 26892650

2016
dbSNP: rs141798398
rs141798398
CDKN2A
T 0.700 CausalMutation CLINVAR Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. 27083775

2016
dbSNP: rs1554653956
rs1554653956
CDKN2A
T 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: rs749714198
rs749714198
CDKN2A
A 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: rs749714198
rs749714198
CDKN2A
A 0.700 GeneticVariation CLINVAR Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature? 26650572

2016
dbSNP: rs768966657
rs768966657
CDKN2A
AGAC 0.700 GeneticVariation CLINVAR Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases. 27287845

2016
dbSNP: rs104894095
rs104894095
CDKN2A
T 0.700 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Novel CDKN2A mutations in Austrian melanoma patients. 26225579

2015
dbSNP: rs45476696
rs45476696
CDKN2A
A 0.700 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015
dbSNP: rs587780668
rs587780668
CDKN2A
AGGCTCCATGCTGCTCCCCGCCGCC 0.700 GeneticVariation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015
dbSNP: rs587782083
rs587782083
CDKN2A ; CDKN2B-AS1
T 0.700 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015
dbSNP: rs587782206
rs587782206
CDKN2A
G 0.700 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015
dbSNP: rs768966657
rs768966657
CDKN2A
AGAC 0.700 GeneticVariation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015
dbSNP: rs864622636
rs864622636
CDKN2A
A 0.700 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015
dbSNP: rs864622636
rs864622636
CDKN2A
A 0.700 CausalMutation CLINVAR Personalized genomic analyses for cancer mutation discovery and interpretation. 25877891

2015