Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55819519
rs55819519
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation BEFREE Mutated IDH1 R132H protein and H3F3A K27M mutations indicate that a substantial number of GBMc are "metastatic" or "diaschismatic" lesions. 30203362

2018

dbSNP: rs55819519
rs55819519
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation BEFREE We prospectively analyzed the clinical data over the course of the disease, baseline MR imaging, and histological characteristics (p53 overexpression, the Ki67 proliferation index, and presence of the IDH1 R132H mutation), in glioblastomas treated in a single hospital from November 2012 to July 2014. 28073027

2017

dbSNP: rs55819519
rs55819519
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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: rs55819519
rs55819519
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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: rs55819519
rs55819519
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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: rs55819519
rs55819519
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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: rs55819519
rs55819519
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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: rs55819519
rs55819519
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
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: rs55819519
rs55819519
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation BEFREE We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with oligodendroglioma/oligoastrocytomas (n = 20), astrocytomas (grade II) (n = 19), anaplastic astrocytomas (n = 21) or glioblastomas (n = 111). 23934175

2013

dbSNP: rs55819519
rs55819519
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation BEFREE Data showed that 53.7% (72/134) of cases showed mutations affecting codon 132 of IDH1, including 73.2% of LOs, 82.9% of AOs and three primary GBMs (6.5%).All IDH1 mutations were Arg132His. 22922798

2012

dbSNP: rs55819519
rs55819519
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.100 GeneticVariation BEFREE Isocitrate dehydrogenase 1 (IDH1) gene mutations, primarily of the R132H type, occur in approximately 60 - 90% of diffuse and anaplastic gliomas and secondary glioblastomas. 21955925

2011