rs118101777, IDH2

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.020 GeneticVariation BEFREE The aim of this study is to investigate in depth the prevalence of non-R132H IDH ("non-canonical") mutations in brain tumors classified according to the 2016 WHO scheme and their clonal distribution in neoplastic cells. 28748342 2017
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.020 GeneticVariation BEFREE A total of 343 brain tumors were studied for IDH1 and IDH2 mutations by direct sequencing and for protein expression by immunohistochemistry with mIDH1(R132H) antibody. 21643842 2011