Gene: CDKN2A ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894098
rs104894098
CDKN2A
0.710 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: rs878853647
rs878853647
CDKN2A
0.710 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: 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