Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913500
rs121913500
IDH1
0.100 GeneticVariation BEFREE Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro. 23115158

2013
dbSNP: rs121913500
rs121913500
IDH1
0.100 GeneticVariation BEFREE Here we show that SREBPs were up-regulated in U87 human glioblastoma cells transfected with an IDH1(R132H)-expression plasmid. 24077277

2013
dbSNP: rs121913500
rs121913500
IDH1
0.100 GeneticVariation BEFREE Expression of R132H mutational IDH1 in human U87 glioblastoma cells affects the SREBP1a pathway and induces cellular proliferation. 23011765

2013
dbSNP: rs121913500
rs121913500
IDH1
0.100 GeneticVariation BEFREE This group showed absent IDH1-R132</span>H expression, which is characteristic of primary GBM. 22197544

2012
dbSNP: rs121913500
rs121913500
IDH1
0.100 GeneticVariation BEFREE Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells. 21352804

2011
dbSNP: rs121913500
rs121913500
IDH1
0.100 GeneticVariation BEFREE Our results indicate that the IDH1 R132H mutation is a powerful prognostic marker in GBM treated with chemoradiation. 20560678

2010
dbSNP: rs121913500
rs121913500
IDH1
0.100 GeneticVariation BEFREE In addition to the previously reported p.R132H and p.R132S alleles, we identified three novel somatic mutations (p.R132C, p.R132G, and p.R132L) affecting residue IDH1(R132) in GBM. 19117336

2009