Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs401681
rs401681
0.860 GeneticVariation BEFREE In a multivariable model that included only the most statistically significant findings from univariable modeling and adjusted for pigmentary phenotype, back nevi, and baseline features, we found TERT/CLPTM1L rs401681 (P = 0.004), TYRP1 rs2733832 (P = 0.006), MTAP rs1335510 (P = 0.0005), TYR rs10830253 (P = 0.003), and MX2 rs45430 (P = 0.008) to be significantly associated with multiple primary melanoma, while NCOA6 rs4911442 approached significance (P = 0.06). 25837821

2015

dbSNP: rs401681
rs401681
0.860 GeneticVariation BEFREE In the melanoma dataset, two pancreatic cancer susceptibility variants were associated: NR5A2 (rs12029406; OR, 1.39; 95% CI, 1.01-1.92; P = 0.04) and CLPTM1L-TERT (rs401681; OR, 1.16; 95% CI, 1.01-1.34; P = 0.04). 24642353

2014

dbSNP: rs401681
rs401681
0.860 GeneticVariation BEFREE We also obtained significant results when we tested the association between rs401681 variant (TERT-CLPTM1L locus) with melanoma risk (Odds ratio, OR; 95% confidence interval, CI=1.24 (1.08-1.43); p-value, 3×10(-3)). 25457634

2014

dbSNP: rs401681
rs401681
0.860 GeneticVariation BEFREE These findings suggested that rs401681 C allele was a low-penetrance risk allele for the development of cancers of lung, bladder, prostate and basal cell carcinoma, but a potential protective allele for melanoma and pancreatic cancer. 23226346

2012

dbSNP: rs401681
rs401681
A 0.860 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

dbSNP: rs401681
rs401681
A 0.860 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

dbSNP: rs401681
rs401681
0.860 GeneticVariation BEFREE Also, the SNP rs401681 in the TERT-CLPTM1L locus was replicated for the association with melanoma risk. 21116649

2011

dbSNP: rs401681
rs401681
0.860 GeneticVariation BEFREE We evaluated the association between single nucleotide polymorphism (SNP) rs401681 (C > T) and mean telomere length, using quantitative real-time PCR, in blood-extracted DNA collected from 11,314 cancer-free participants from the Sisters in Breast Screening study, the Melanoma and Pigmented Lesions Evaluative Study melanoma family study, and the SEARCH Breast, Colorectal, Melanoma studies. 20570912

2010

dbSNP: rs45430
rs45430
MX2
0.820 GeneticVariation BEFREE A single nucleotide polymorphism (SNP), rs45430, in an intron of the MX2 gene, was previously reported as a novel melanoma susceptibility locus in genome-wide association studies. 31660681

2019

dbSNP: rs45430
rs45430
MX2
T 0.820 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542

2017

dbSNP: rs45430
rs45430
MX2
0.820 GeneticVariation BEFREE In a multivariable model that included only the most statistically significant findings from univariable modeling and adjusted for pigmentary phenotype, back nevi, and baseline features, we found TERT/CLPTM1L rs401681 (P = 0.004), TYRP1 rs2733832 (P = 0.006), MTAP rs1335510 (P = 0.0005), TYR rs10830253 (P = 0.003), and MX2 rs45430 (P = 0.008) to be significantly associated with multiple primary melanoma, while NCOA6 rs4911442 approached significance (P = 0.06). 25837821

2015

dbSNP: rs3219090
rs3219090
0.820 GeneticVariation BEFREE We confirmed the proposed role of rs3219090, located on the PARP1 gene, and rs12203592, located on the IRF4 gene, as protective to MM along the same lines as have previous genome-wide associated works. 23537197

2013

dbSNP: rs3219090
rs3219090
C 0.820 GeneticVariation GWASCAT We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)). 21983785

2011

dbSNP: rs3219090
rs3219090
C 0.820 GeneticVariation GWASDB We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)). 21983785

2011

dbSNP: rs3219090
rs3219090
0.820 GeneticVariation BEFREE We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)). 21983785

2011

dbSNP: rs45430
rs45430
MX2
0.820 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

dbSNP: rs45430
rs45430
MX2
0.820 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

dbSNP: rs1801516
rs1801516
ATM
0.810 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542

2017

dbSNP: rs7023329
rs7023329
0.810 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542

2017

dbSNP: rs910873
rs910873
A 0.810 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542

2017

dbSNP: rs17119461
rs17119461
0.810 GeneticVariation BEFREE In the PanScan data, initial associations were found with melanoma susceptibility variants in NCOA6 [rs4911442; OR, 1.32; 95% confidence interval (CI), 1.03-1.70; P = 0.03], YWHAZP5 (rs17119461; OR, 2.62; 95% CI, 1.08-6.35; P = 0.03), and YWHAZP5 (rs17119490; OR, 2.62; 95% CI, 1.08-6.34; P = 0.03), TYRP1 (P = 0.04), and IFNA13 (P = 0.04). 24642353

2014

dbSNP: rs4698934
rs4698934
0.810 GeneticVariation GWASCAT The SNP rs4698934 was nominally significantly associated with melanoma risk. 24980573

2014

dbSNP: rs4698934
rs4698934
0.810 GeneticVariation GWASDB The SNP rs4698934 was nominally significantly associated with melanoma risk. 24980573

2014

dbSNP: rs4698934
rs4698934
0.810 GeneticVariation BEFREE The SNP rs4698934 was nominally significantly associated with melanoma risk. 24980573

2014

dbSNP: rs1801516
rs1801516
ATM
0.810 GeneticVariation BEFREE Finally, rs1801516, located on the ATM gene, showed a trend towards a protective role in MM similar to the one firstly described in a GWAS study. 23537197

2013