Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs401681
rs401681
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
A 0.860 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

dbSNP: rs401681
rs401681
CUI: C0025202
Disease: melanoma
melanoma
A 0.860 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

dbSNP: rs401681
rs401681
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
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: rs401681
rs401681
CUI: C0025202
Disease: melanoma
melanoma
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: rs45430
rs45430
MX2
CUI: C0025202
Disease: melanoma
melanoma
0.820 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

dbSNP: rs45430
rs45430
MX2
CUI: C0025202
Disease: melanoma
melanoma
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: rs45430
rs45430
MX2
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
0.820 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

dbSNP: rs3219090
rs3219090
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
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: rs910873
rs910873
CUI: C0025202
Disease: melanoma
melanoma
A 0.810 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542

2017

dbSNP: rs910873
rs910873
CUI: C0025202
Disease: melanoma
melanoma
T 0.810 GeneticVariation GWASCAT Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1 x 10(-15)). 18488026

2008

dbSNP: rs910873
rs910873
CUI: C0025202
Disease: melanoma
melanoma
T 0.810 GeneticVariation GWASDB Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1 x 10(-15)). 18488026

2008

dbSNP: rs910873
rs910873
CUI: C0025202
Disease: melanoma
melanoma
0.810 GeneticVariation BEFREE Our results do not support an association between CMM and any of the STX17 SNPs and provide no evidence for interactions between the melanoma risk SNP rs910873 on chromosome 20 and any of the STX17 SNPs. 19209086

2009

dbSNP: rs7023329
rs7023329
CUI: C0025202
Disease: melanoma
melanoma
A 0.810 GeneticVariation GWASCAT Genome-wide association study identifies three loci associated with melanoma risk. 19578364

2009

dbSNP: rs7023329
rs7023329
CUI: C0025202
Disease: melanoma
melanoma
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: rs7023329
rs7023329
CUI: C0025202
Disease: melanoma
melanoma
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
CUI: C0025202
Disease: melanoma
melanoma
0.810 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542

2017