Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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: 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: 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

dbSNP: rs1801516
rs1801516
ATM
0.810 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

dbSNP: rs1801516
rs1801516
ATM
0.810 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

dbSNP: rs7023329
rs7023329
0.810 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

dbSNP: rs7023329
rs7023329
0.810 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011

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

2009

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

2009

dbSNP: rs910873
rs910873
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: rs910873
rs910873
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
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: rs113488022
rs113488022
0.800 GeneticVariation BEFREE While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions. 31791701

2020

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE The p.V600E mutation in the BRAF protein is the most frequent mutation in cutaneous melanoma and is a recurrent alteration found in common benign naevi. 31102256

2020

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE A 39-year-old white male was treated with vemurafenib, cobimetinib, and atezolizumab for a stage IV (T0, N3, M1) BRAF-V600E mutated malignant melanoma in the context of a clinical trial. 31157737

2020

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Combinations of BRAF inhibitors and MEK inhibitors (BRAFi + MEKi) are FDA-approved to treat BRAF V600E/K mutant melanoma. 31796433

2020

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE The V600E mutation of BRAF (BRAF<sup>V600E</sup>), which constitutively activates the ERK/MAPK signaling pathway, is frequently found in melanoma and other cancers. 31548614

2020

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE V600R-mutant melanoma accounts for a significant number of cases even in single-institution practices. 31305324

2020

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE The V600E mutation of BRAF (BRAF<sup>V600E</sup>), which constitutively activates the ERK/MAPK signaling pathway, is frequently found in melanoma and other cancers. 31548614

2020

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE A 39-year-old white male was treated with vemurafenib, cobimetinib, and atezolizumab for a stage IV (T0, N3, M1) BRAF-V600E mutated malignant melanoma in the context of a clinical trial. 31157737

2020

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions. 31791701

2020

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE The p.V600E mutation in the BRAF protein is the most frequent mutation in cutaneous melanoma and is a recurrent alteration found in common benign naevi. 31102256

2020

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE Combinations of BRAF inhibitors and MEK inhibitors (BRAFi + MEKi) are FDA-approved to treat BRAF V600E/K mutant melanoma. 31796433

2020

dbSNP: rs1057519695
rs1057519695
0.800 GeneticVariation BEFREE The activating NRAS p.Q61R variant is a known "hotspot" variant, frequently identified in several types of human cancer, especially melanoma. 30542204

2019