Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1015362
rs1015362
0.010 GeneticVariation BEFREE Except for rs1015363, none of the 12 tagging SNPs, genotyped to cover 239.9 kb region with polymorphisms linked to rs4911414 and rs1015362, were associated with melanoma. 22628150

2013

dbSNP: rs1015363
rs1015363
0.010 GeneticVariation BEFREE Except for rs1015363, none of the 12 tagging SNPs, genotyped to cover 239.9 kb region with polymorphisms linked to rs4911414 and rs1015362, were associated with melanoma. 22628150

2013

dbSNP: rs10231520
rs10231520
0.010 GeneticVariation BEFREE We identified three SNPs that were associated with decreased melanoma risk in additive models: rs10231520 (OR: 0.83, 95% CI: 0.70-0.98), rs17817117 (OR: 0.82, 95% CI: 0.68-0.98), and rs2301641 (OR: 0.83, 95% CI: 0.69-0.98). 23770371

2013

dbSNP: rs1024708183
rs1024708183
0.020 GeneticVariation BEFREE We studied global gene expression in three melanoma cell lines with the most common and potent V600E mutation in the B-RAF gene-four cell lines with a common Q61R mutation in the N-RAS gene and three cell lines with no mutations using human HG-U133A 2.0 micro-arrays with 22 277 transcripts. 15760917

2005

dbSNP: rs1024708183
rs1024708183
0.020 GeneticVariation BEFREE Formalin-fixed and paraffin-embedded melanoma tissues were analyzed for BRAF and NRAS mutations by independent, blinded observers using both conventional DNA molecular techniques and immunohistochemistry with the novel anti-human N-Ras (Q61R) monoclonal antibody (clone SP174). 25341653

2015

dbSNP: rs1034265990
rs1034265990
0.010 GeneticVariation BEFREE POT1 p.I78T is a newly identified, likely pathogenic, variant meriting screening for in families with melanoma after more common predisposition genes such as CDKN2A have been excluded. 30586141

2019

dbSNP: rs1035142
rs1035142
0.700 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Our meta-analysis based on all studies shows that the p53 Arg72Pro polymorphism may increase individual susceptibility to CM, particularly in Caucasians and could serve as a biomarker to predict the population at high risk of CM. 25774791

2015

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE The data suggest for the first time that P53 Arg72Pro, MDM2 c.+309T>G, BAX c.-248G>A, and BCL2 c.-717C>A polymorphisms, enrolled in apoptosis pathways, constitute distinct determinants of CM in women and men. 24461648

2014

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE We evaluated the effect of MDM2 SNP309 and its interaction with the p53 Arg72Pro polymorphism on pigmentary phenotypes and skin cancer risk in a nested case-control study within the Nurses' Health Study (NHS) among 219 melanoma cases, 286 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 873 controls, and among controls from other studies. 18814047

2009

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Risk of cancer specific mortality, cardiovascular mortality, and respiratory mortality were not associated with Arg72Pro genotype overall; however, in exploratory subgroup analyses, genotype-associated risks of malignant melanoma and diabetes were altered. 28336930

2017

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. 23568549

2013

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE In melanoma, the effects for SNP309 and the related tumor protein p53 (TP53) Arg72Pro are inconsistent among published reports. 22336942

2012

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE This meta-analysis suggests that genotypes for the TP53 rs1042522 G>C polymorphism might not be associated with the risk of melanoma. 26148609

2016

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE The rs1042522 was also selected as a CM risk factor in multivariate models, suggesting an effect that is independent from and complementary to that of rs1805007. 31612033

2019

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE We evaluated the association of the Arg72Pro polymorphism with skin cancer risk among Caucasians in a nested case-control study within the Nurses' Health Study (NHS) (219 melanoma, 286 squamous cell carcinoma (SCC), and 300 basal cell carcinoma (BCC) and 874 controls). 16739124

2006

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Prospectively enrolled melanoma patients (N = 227) were evaluated for MDM2 SNP309 and the related polymorphism, p53 Arg72Pro. 19318491

2009

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE No associations were found among the SNP309, Arg72Pro, risk of CM, age at diagnosis and presence of metastasis in total subjects and when stratified according to the gender. 20535124

2010

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma. 26427666

2016

dbSNP: rs104894094
rs104894094
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. 11807902

2002

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE We investigated the frequency of the MC1R variants in the Italian region of Liguria, where the occurrence and penetrance of melanoma are low and primary susceptibility is characterized by prevalence of the CDKN2A c.301G>T [p.G101W] founder mutation. 15221796

2004

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE Three of them are CDKN2A mutations previously described in the Mediterranean population (p.G101W, p.V59G and c.358delG) in addition to an undescribed deletion (p. M54del) which has been detected in a melanoma kindred. 20653773

2010

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE In two out of six families with both mesothelioma and melanoma we identified either a germline nonsense mutation (c.1153C > T, p.Arg385*) in BAP1 or a recurrent pathogenic germline mutation (c.301G > T, p.Gly101Trp) in CDKN2A. 27181379

2016

dbSNP: rs104894094
rs104894094
0.800 GeneticVariation BEFREE We found the disease-associated mutations p.R24P (8×), p.N71T (1×), p.G101W (1×), and p.V126D (1×) in the group with affected relatives and p.R24P (2×) in the group with several primary melanomas. 26225579

2015