Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763538721
rs763538721
CUI: C0025202
Disease: melanoma
melanoma
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: rs763538721
rs763538721
CUI: C0025202
Disease: melanoma
melanoma
0.040 GeneticVariation BEFREE The present study evaluated the effect of hypoxia on three BRAF-V600E mutant melanoma cell lines, M14, A375 and 518A2, treated with vemurafenib. 26936534

2016

dbSNP: rs763538721
rs763538721
CUI: C0025202
Disease: melanoma
melanoma
0.040 GeneticVariation BEFREE ETV1 expression is a rare event in human melanoma and seems to be rather based on hyperactivation of MAPK signals, by BRAF (V600E) mutation, than on ETV1 gene amplification. 25073704

2014

dbSNP: rs763538721
rs763538721
CUI: C0025202
Disease: melanoma
melanoma
0.040 GeneticVariation BEFREE Our data show for the first time that BRAF(V600E) mutation increases HIF-1alpha expression and melanoma cell survival under hypoxic conditions and suggest that effects of the oncogenic V600E BRAF mutation may be partially mediated through the HIF-1alpha pathway. 17409425

2007