Source: ALL
Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs401681
rs401681
0.850 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

2016

dbSNP: rs401681
rs401681
0.850 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

2016

dbSNP: rs401681
rs401681
0.850 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

2015

dbSNP: rs401681
rs401681
0.850 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

2013

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

2011

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

2011

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

2011

dbSNP: rs3219090
rs3219090
0.820 GeneticVariation BEFREE Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population. 23537197

2013

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: rs3219090
rs3219090
0.820 GeneticVariation GWASDB Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. 21983785

2011

dbSNP: rs3219090
rs3219090
0.820 GeneticVariation GWASCAT Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. 21983785

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: rs45430
rs45430
MX2
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
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

2016

dbSNP: rs45430
rs45430
MX2
0.810 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

2016

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

2014

dbSNP: rs4698934
rs4698934
0.810 GeneticVariation GWASCAT Identification of a melanoma susceptibility locus and somatic mutation in TET2. 24980573

2014

dbSNP: rs4698934
rs4698934
0.810 GeneticVariation GWASDB Identification of a melanoma susceptibility locus and somatic mutation in TET2. 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

dbSNP: rs7023329
rs7023329
0.810 GeneticVariation BEFREE One SNP in MTAP (methylthioadenosine phosphorylase) (rs7023329) that was previously associated with melanoma and nevi in multiple genome-wide association studies was associated with CRC, CA and OS by ASSET (P=0.007). 23361049

2013

dbSNP: rs17119461
rs17119461
0.810 GeneticVariation GWASCAT A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q. 21706340

2012

dbSNP: rs17119461
rs17119461
0.810 GeneticVariation GWASDB A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q. 21706340

2012

dbSNP: rs7023329
rs7023329
0.810 GeneticVariation GWASDB A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q. 21706340

2012