Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805007
rs1805007
0.020 GeneticVariation BEFREE These studies have shown that three RHC alleles - Arg151Cys, Arg160Trp and Asp294His - were associated with increased risk in all forms of skin cancer and with penetrance and age of onset in familial melanoma in mutation carriers. 12394181

2002

dbSNP: rs1805009
rs1805009
0.020 GeneticVariation BEFREE These studies have shown that three RHC alleles - Arg151Cys, Arg160Trp and Asp294His - were associated with increased risk in all forms of skin cancer and with penetrance and age of onset in familial melanoma in mutation carriers. 12394181

2002

dbSNP: rs1232547491
rs1232547491
0.010 GeneticVariation BEFREE These studies have shown that three RHC alleles - Arg151Cys, Arg160Trp and Asp294His - were associated with increased risk in all forms of skin cancer and with penetrance and age of onset in familial melanoma in mutation carriers. 12394181

2002

dbSNP: rs1805008
rs1805008
0.010 GeneticVariation BEFREE These studies have shown that three RHC alleles - Arg151Cys, Arg160Trp and Asp294His - were associated with increased risk in all forms of skin cancer and with penetrance and age of onset in familial melanoma in mutation carriers. 12394181

2002

dbSNP: rs1799782
rs1799782
0.030 GeneticVariation BEFREE Our data suggest that the Arg194Trp and Arg399Gln polymorphisms may be differently associated with skin cancer risk according to exposure dose and skin cancer type. 15381933

2004

dbSNP: rs25487
rs25487
0.030 GeneticVariation BEFREE Our data suggest that the Arg194Trp and Arg399Gln polymorphisms may be differently associated with skin cancer risk according to exposure dose and skin cancer type. 15381933

2004

dbSNP: rs1799793
rs1799793
0.030 GeneticVariation BEFREE We assessed the associations between two common nonsynonymous polymorphisms (Asp312Asn and Lys751Gln) with skin cancer risk in a nested case-control study within the Nurses' Health Study (219 melanoma, 286 squamous cell carcinoma, 300 basal cell carcinoma, and 874 controls) along with exploratory analysis on the haplotype structure of the XPD gene. 15941969

2005

dbSNP: rs13181
rs13181
0.020 GeneticVariation BEFREE We assessed the associations between two common nonsynonymous polymorphisms (Asp312Asn and Lys751Gln) with skin cancer risk in a nested case-control study within the Nurses' Health Study (219 melanoma, 286 squamous cell carcinoma, 300 basal cell carcinoma, and 874 controls) along with exploratory analysis on the haplotype structure of the XPD gene. 15941969

2005

dbSNP: rs1042522
rs1042522
0.040 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: rs1131691014
rs1131691014
0.040 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: rs878854066
rs878854066
0.040 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: rs1217691063
rs1217691063
0.020 GeneticVariation BEFREE We evaluated genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) and the vitamin D receptor (VDR) gene (Fok1, Bsm1 and Cdx2) with skin cancer risk in a nested case-control study within the Nurses' Health Study [219 melanoma, 286 squamous cell carcinoma (SCC), 300 basal cell carcinoma (BCC) and 873 controls]. 16950800

2007

dbSNP: rs397507444
rs397507444
0.020 GeneticVariation BEFREE We evaluated genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) and the vitamin D receptor (VDR) gene (Fok1, Bsm1 and Cdx2) with skin cancer risk in a nested case-control study within the Nurses' Health Study [219 melanoma, 286 squamous cell carcinoma (SCC), 300 basal cell carcinoma (BCC) and 873 controls]. 16950800

2007

dbSNP: rs749140677
rs749140677
VDR
0.010 GeneticVariation BEFREE We evaluated genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) and the vitamin D receptor (VDR) gene (Fok1, Bsm1 and Cdx2) with skin cancer risk in a nested case-control study within the Nurses' Health Study [219 melanoma, 286 squamous cell carcinoma (SCC), 300 basal cell carcinoma (BCC) and 873 controls]. 16950800

2007

dbSNP: rs1805007
rs1805007
0.020 GeneticVariation BEFREE We studied the desensitization and internalization of three variant MC1R forms associated with red hair and increased skin cancer risk: R151C, R160W, and D294H. 17130136

2007

dbSNP: rs4880
rs4880
0.010 GeneticVariation BEFREE We assessed whether the functional V16A polymorphism in the MnSOD gene is associated with skin cancer risk. 17186424

2007

dbSNP: rs1799782
rs1799782
0.030 GeneticVariation BEFREE Our data suggest that the Arg194Trp and Arg399Gln polymorphisms may be differentially associated with skin cancer risk. 17355263

2007

dbSNP: rs25487
rs25487
0.030 GeneticVariation BEFREE Our data suggest that the Arg194Trp and Arg399Gln polymorphisms may be differentially associated with skin cancer risk. 17355263

2007

dbSNP: rs1805009
rs1805009
0.020 GeneticVariation BEFREE MC1R gene sequencing identified in two NBCCS patients affected by multiple basal cell carcinomas a functional MC1R variant, D294H, previously shown to be associated with skin cancer risk. 18539553

2008

dbSNP: rs1042522
rs1042522
0.040 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: rs1131691014
rs1131691014
0.040 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: rs878854066
rs878854066
0.040 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: rs1353702185
rs1353702185
0.010 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: rs41556519
rs41556519
0.010 GeneticVariation BEFREE However, there is marked clinical heterogeneity (including presence or absence of skin cancers or neurological degeneration) in these XPD/R683W patients, thus suggesting a contribution of the second allele. 19934020

2009

dbSNP: rs1042522
rs1042522
0.040 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that the TP53 Arg72Pro polymorphism may have little involvement in skin cancer susceptibility. 20861852

2011