Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554654224
rs1554654224
C 0.700 GeneticVariation CLINVAR Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma. 28592523

2017

dbSNP: rs34968276
rs34968276
T 0.700 GeneticVariation CLINVAR Characterization of melanoma susceptibility genes in high-risk patients from Central Italy. 28146043

2017

dbSNP: rs1800586
rs1800586
A 0.700 CausalMutation CLINVAR Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome. 29263814

2016

dbSNP: rs1800586
rs1800586
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: rs1800586
rs1800586
A 0.700 CausalMutation CLINVAR Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. 26775776

2016

dbSNP: rs1800586
rs1800586
A 0.700 CausalMutation CLINVAR The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma. 26581427

2016

dbSNP: rs199907548
rs199907548
G 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: rs730881677
rs730881677
G 0.700 CausalMutation CLINVAR CDKN2A mutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature. 26876133

2016

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

2016

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

2015

dbSNP: rs199907548
rs199907548
G 0.700 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

dbSNP: rs372670098
rs372670098
C 0.700 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

dbSNP: rs372670098
rs372670098
C 0.700 GeneticVariation CLINVAR Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children. 26104880

2015

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

2015

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

2015

dbSNP: rs587780668
rs587780668
AGGCTCCATGCTGCTCCCCGCCGCC 0.700 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015

dbSNP: rs730881674
rs730881674
C 0.700 CausalMutation CLINVAR Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant. 25227142

2015

dbSNP: rs768966657
rs768966657
AGAC 0.700 CausalMutation CLINVAR Germline mutations predisposing to non-small cell lung cancer. 25813228

2015

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

2015

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

2015

dbSNP: rs1131691186
rs1131691186
T 0.700 GeneticVariation CLINVAR CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment. 24659262

2014

dbSNP: rs1131691186
rs1131691186
A 0.700 GeneticVariation CLINVAR CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment. 24659262

2014

dbSNP: rs1800586
rs1800586
A 0.700 CausalMutation CLINVAR Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom. 25780468

2014

dbSNP: rs199907548
rs199907548
G 0.700 GeneticVariation CLINVAR Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 24733792

2014

dbSNP: rs372670098
rs372670098
C 0.700 GeneticVariation CLINVAR Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom. 25780468

2014