Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934574
rs28934574
A 0.700 CausalMutation CLINVAR

dbSNP: rs28934575
rs28934575
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE Fifty-five out of 311 gliomas had IDH R132H mutations (9/16 DAs; 8/48 AAs; 3/211 GBMs; 35/36 oligodendrogliomas), one DA, and one oligodendroglioma had other IDH mutations. 31758617

2020

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE Mutated IDH1 R132H protein was expressed in 2 GBM from adult patients with previous supratentorial anaplastic astrocytoma. 30203362

2018

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE The histopathologic examination confirmed a leptomeningeal spread of a K27M-mutated anaplastic astrocytoma (WHO° III) without R132H-IDH1 mutation. 29066318

2018

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE This study looks into the potential prognostic use of mitotic activity and the proliferation markers Ki67/MiB-1 (Ki67), survivin and DNA topoisomerase IIα (TIIα) in 59 WHO grade II diffuse astrocytomas (DA) and 33 WHO grade III anaplastic astrocytomas (AA), IDH1 R132H-mutated and not otherwise specified (NOS) by means of immunohistochemistry. 28214203

2017

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE The R132H mutation in IDH1 was found in 60.5% (23/38) of patients in the AA cohort (Groups 2 and 4) and 20.0% (13/65) of patients from our GBM cohort (Groups 3 and 5), whereas all patients with ODG (Group 1) had a mutation either in IDH1 (n = 62) or IDH2 (n = 3). 28851427

2017

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE We describe a patient who underwent surgical resection, followed by adjuvant radiation and temozolomide of a World Health Organization (WHO) III anaplastic astrocytoma in the right temporal lobe, exhibiting an IDH1 (R132H) mutation. 26911558

2016

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE R132H was the only mutation found in 17.6% (6/34) of cases, including in astrocytomas, anaplastic astrocytomas, oligodendroglioma, and anaplastic oligoastrocytoma. 26125858

2015

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE We show that expression levels of many proteins are altered in IDH1(R132H) mutant anaplastic astrocytoma. 24473683

2014

dbSNP: rs121913500
rs121913500
0.100 GeneticVariation BEFREE The IDH1 c.G395A; p.R132H mutation was observed in 56 and 94 % of grade II and grade III astrocytoma cases, respectively. 23934769

2014

dbSNP: rs121913500
rs121913500
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: rs121913500
rs121913500
0.100 GeneticVariation BEFREE In conclusion, the anti-IDH1-R132H-specific monoclonal antibody IMab-1 is very useful for detecting IDH1-R132H in immunohistochemistry, and predicting the time to progression in grade III anaplastic astrocytomas. 21344322

2011

dbSNP: rs118101777
rs118101777
0.040 GeneticVariation BEFREE Fifty-five out of 311 gliomas had IDH R132H mutations (9/16 DAs; 8/48 AAs; 3/211 GBMs; 35/36 oligodendrogliomas), one DA, and one oligodendroglioma had other IDH mutations. 31758617

2020

dbSNP: rs118101777
rs118101777
0.040 GeneticVariation BEFREE The R132H mutation in IDH1 was found in 60.5% (23/38) of patients in the AA cohort (Groups 2 and 4) and 20.0% (13/65) of patients from our GBM cohort (Groups 3 and 5), whereas all patients with ODG (Group 1) had a mutation either in IDH1 (n = 62) or IDH2 (n = 3). 28851427

2017

dbSNP: rs118101777
rs118101777
0.040 GeneticVariation BEFREE We describe a patient who underwent surgical resection, followed by adjuvant radiation and temozolomide of a World Health Organization (WHO) III anaplastic astrocytoma in the right temporal lobe, exhibiting an IDH1 (R132H) mutation. 26911558

2016

dbSNP: rs118101777
rs118101777
0.040 GeneticVariation BEFREE R132H was the only mutation found in 17.6% (6/34) of cases, including in astrocytomas, anaplastic astrocytomas, oligodendroglioma, and anaplastic oligoastrocytoma. 26125858

2015

dbSNP: rs55819519
rs55819519
0.020 GeneticVariation BEFREE Mutated IDH1 R132H protein was expressed in 2 GBM from adult patients with previous supratentorial anaplastic astrocytoma. 30203362

2018

dbSNP: rs55819519
rs55819519
0.020 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: rs1415342243
rs1415342243
0.010 GeneticVariation BEFREE Mutated IDH1 R132H protein was expressed in 2 GBM from adult patients with previous supratentorial anaplastic astrocytoma. 30203362

2018

dbSNP: rs760090729
rs760090729
0.010 GeneticVariation BEFREE Mutated IDH1 R132H protein was expressed in 2 GBM from adult patients with previous supratentorial anaplastic astrocytoma. 30203362

2018

dbSNP: rs866960721
rs866960721
0.010 GeneticVariation BEFREE Mutated IDH1 R132H protein was expressed in 2 GBM from adult patients with previous supratentorial anaplastic astrocytoma. 30203362

2018

dbSNP: rs751859698
rs751859698
0.010 GeneticVariation BEFREE Missense mutations in the MSH4 DNA repair gene (c.2480T>A; p.I827N) were detected in three patients with gliomas (two anaplastic astrocytomas, two glioblastomas). 25041856

2014

dbSNP: rs1057519903
rs1057519903
0.010 GeneticVariation BEFREE The K27M mutation occurred in 35 of 129 glioblastomas (27.1%) and in 5 of 28 (17.9%) anaplastic astrocytomas. 23429371

2013

dbSNP: rs1412829
rs1412829
0.010 GeneticVariation BEFREE Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs1412829 and RTEL1 rs6010620) for GBM and anaplastic astrocytoma. 20212223

2010