Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2297440
rs2297440
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.730 GeneticVariation BEFREE Using the χ(2) test, we found that rs2297440 and rs6010620 in RTEL1 increased risk of GBM. 26156397

2015

dbSNP: rs2297440
rs2297440
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.730 GeneticVariation BEFREE The opposite is true of RTEL (20q13) region polymorphisms, which are significantly associated with glioblastoma (rs2297440, OR = 0.56, P = 4.6 × 10(-10)) but not oligodendroglial tumor. 21356187

2011

dbSNP: rs2297440
rs2297440
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.730 GeneticVariation BEFREE We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM and CCDC26 rs10464870 and rs891835, HMGA2 rs1563834, and RTEL1 rs2297440 as predictors of LTS. 20368557

2010

dbSNP: rs78378222
rs78378222
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.710 GeneticVariation BEFREE The association between rs78378222 and risk was seen for both glioblastoma multiforme (GBM) and non-GBM tumours. 23571737

2013

dbSNP: rs55705857
rs55705857
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.710 GeneticVariation BEFREE Analysis by glioma subtype showed the association with rs55705857 confined to non-glioblastoma multiforme (non-GBM) tumours (P = 1.07 × 10(-67)). 23399484

2013

dbSNP: rs3851634
rs3851634
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.710 GeneticVariation BEFREE After genotyping an additional 1,490 cases and 1,723 controls we identify new risk loci for glioblastoma (GBM) at 12q23.33 (rs3851634, near POLR3B, P=3.02 × 10(-9)) and non-GBM at 10q25.2 (rs11196067, near VTI1A, P=4.32 × 10(-8)), 11q23.2 (rs648044, near ZBTB16, P=6.26 × 10(-11)), 12q21.2 (rs12230172, P=7.53 × 10(-11)) and 15q24.2 (rs1801591, near ETFA, P=5.71 × 10(-9)). 26424050

2015

dbSNP: rs10069690
rs10069690
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.710 GeneticVariation BEFREE The minor alleles of rs2736100 and rs10069690 SNP's, located in intron 2 and the promotor regions, respectively, were associated with an increased risk of developing GBM (p = 0.004 and 0.001). 26143636

2015

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE A clonal IDH1 R132H mutation in the primary, a known GBM driver event, was detectable at only very low frequency in the recurrent tumour. 25732040

2015

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
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
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE The aim of this study was to explore the difference in high mobility group A1 (HMGA1) expression and isocitrate dehydrogenase (IDH) 1 R132H point mutation in initial and recurrent glioblastoma multiforme (GBM), and to further identify whether the expression of HMGA1 has a role in the malignant progression of GBM. 26092597

2015

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE HMab-2 detected endogenous IDH1-R132H protein expressed in glioblastoma in immunohistochemical analysis. 26381180

2015

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE In addition, overexpression of IDH1-R132H in glioblastoma cell lines U87 and U251 led to reduced cell proliferation, migration and invasion, accompanied by increased apoptosis. 26860959

2016

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
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
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. 26190195

2015

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE Tumor-to-muscle ratios were also significantly higher in U251/IDH1 R132H tumo</span>rs (3.36 ± </span>0.41 vs. 1.88 ± 0.59, p = 0.0030). 31667733

2019

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE Three GBM-O samples had IDH1 (p.R132H) mutations; two of these also demonstrated 1p/19q co-deletion and had a proneural transcriptional profile, a molecular signature characteristic of oligodendroglioma. 26757882

2016

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE A total of 15.3% of enrolled GBMs demonstrated loss of ATRX expression (ATRX-), 10.4% expressed an aberrant IDH1 R132H protein (IDH1+), and 48.4% exhibited p53 overexpression (p53+). 27478330

2016

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE We found that both low-grade and high-grade (i.e., GBM) IDH1 R132H gliomas exhibit low Fn14 mRNA and protein levels compared to IDH1 WT gliomas. 29453678

2018

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
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
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE This group showed absent IDH1-R132</span>H expression, which is characteristic of primary GBM. 22197544

2012

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE Among the GBM cases it was noted that the IDH1 immunopositive tumors (R132H mutant protein; n=17) had a low MnSOD expression as opposed to IDH1 immunonegative tumors (n=106), which had high expression of MnSOD (p=0.0307). 26616112

2016

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. 25427834

2015

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE For this reason, it was suggested that immunohistochemistry against IDH1 R132H is sufficient to classify GBM as IDH wild-type in this age group. 31758617

2020

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.100 GeneticVariation BEFREE Induction of G-CIMP+ state by exogenous expression of a mutated isocitrate dehydrogenase 1, IDH1-R132H, suppressed EGFR and H-Ras protein expression as well as pERK accumulation in independent glioblastoma models. 25277177

2014

dbSNP: rs121913500
rs121913500
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
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