Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE B-raf V600E protein analysis revealed a subjacent layer of heterogeneity for mutation-positive metastatic melanomas. 31835364

2019

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE B-raf V600E protein analysis revealed a subjacent layer of heterogeneity for mutation-positive metastatic melanomas. 31835364

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Chronic sun-damaged (CSD) melanoma represents 10%-20% of cutaneous melanomas and is characterized by infrequent BRAF V600E mutations and high mutational load. 31811783

2019

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE Chronic sun-damaged (CSD) melanoma represents 10%-20% of cutaneous melanomas and is characterized by infrequent BRAF V600E mutations and high mutational load. 31811783

2019

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: 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: rs10816595
rs10816595
0.010 GeneticVariation BEFREE Individuals having melanoma in a visibly UV-damaged site were more likely to carry MC1R rs75570604 (odds ratio [OR] 2.5), 9q31.2 rs10816595 (OR 2.5), and MTAP rs869329 (OR 1.4); these same alleles were more common in MPM patients diagnosed ≤40 years. 31794051

2019

dbSNP: rs75570604
rs75570604
0.010 GeneticVariation BEFREE Individuals having melanoma in a visibly UV-damaged site were more likely to carry MC1R rs75570604 (odds ratio [OR] 2.5), 9q31.2 rs10816595 (OR 2.5), and MTAP rs869329 (OR 1.4); these same alleles were more common in MPM patients diagnosed ≤40 years. 31794051

2019

dbSNP: rs869329
rs869329
0.010 GeneticVariation BEFREE Individuals having melanoma in a visibly UV-damaged site were more likely to carry MC1R rs75570604 (odds ratio [OR] 2.5), 9q31.2 rs10816595 (OR 2.5), and MTAP rs869329 (OR 1.4); these same alleles were more common in MPM patients diagnosed ≤40 years. 31794051

2019

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: 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: rs763538721
rs763538721
0.040 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: rs2234663
rs2234663
0.010 GeneticVariation BEFREE The present study investigated whether a variable number tandem repeat (VNTR) polymorphism of interleukin-1 receptor antagonist (IL-1RA) gene (<i>IL-1RN</i>) located in intron 2 (rs2234663) is associated with cutaneous melanoma. 31788049

2019

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE Management of V600E and V600K BRAF-Mutant Melanoma. 31741065

2019

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE The kinetics of ctDNA derived from each cancer type were monitored targeting BRAF V600R (melanoma) and KRAS G13D (colon cancer), specifically reflected the status of the patient's tumours. 31727009

2019

dbSNP: rs112445441
rs112445441
0.010 GeneticVariation BEFREE The kinetics of ctDNA derived from each cancer type were monitored targeting BRAF V600R (melanoma) and KRAS G13D (colon cancer), specifically reflected the status of the patient's tumours. 31727009

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Importantly, ERK1/2 inhibition may have clinical utility in overcoming acquired resistance to RAF and MEK inhibitors, where RAS/MAPK pathway reactivation has occurred, such as relapsed BRAF V600E/K melanoma. 31710489

2019

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE Importantly, ERK1/2 inhibition may have clinical utility in overcoming acquired resistance to RAF and MEK inhibitors, where RAS/MAPK pathway reactivation has occurred, such as relapsed BRAF V600E/K melanoma. 31710489

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE CTC profiling was performed using 5 known melanoma mRNA biomarkers and BRAF V600E DNA mutation. 31672856

2019

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE CTC profiling was performed using 5 known melanoma mRNA biomarkers and BRAF V600E DNA mutation. 31672856

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Orthogonal partial least squares (O-PLS) predicted vemurafenib sensitivity with greater accuracy in both melanoma and non-melanoma BRAF-V600E cell lines than other leading machine learning methods, specifically Random Forests, Support Vector Regression (linear and quadratic kernels) and LASSO-penalized regression. 31672130

2019

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE Orthogonal partial least squares (O-PLS) predicted vemurafenib sensitivity with greater accuracy in both melanoma and non-melanoma BRAF-V600E cell lines than other leading machine learning methods, specifically Random Forests, Support Vector Regression (linear and quadratic kernels) and LASSO-penalized regression. 31672130

2019

dbSNP: rs397517132
rs397517132
0.100 GeneticVariation BEFREE Orthogonal partial least squares (O-PLS) predicted vemurafenib sensitivity with greater accuracy in both melanoma and non-melanoma BRAF-V600E cell lines than other leading machine learning methods, specifically Random Forests, Support Vector Regression (linear and quadratic kernels) and LASSO-penalized regression. 31672130

2019

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: rs1805007
rs1805007
0.800 GeneticVariation BEFREE The rs1042522 was also selected as a CM risk factor in multivariate models, suggesting an effect that is independent from and complementary to that of rs1805007. 31612033

2019