rs121913500, IDH1

N. diseases: 96
Disease: Pilocytic Astrocytoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pilocytic Astrocytoma
CUI: C0334583
Disease: Pilocytic Astrocytoma
0.020 GeneticVariation BEFREE IDH1 R132H mutation in a pilocytic astrocytoma: a case report. 26617931 2015
Pilocytic Astrocytoma
CUI: C0334583
Disease: Pilocytic Astrocytoma
0.020 GeneticVariation BEFREE Our results indicate the usefulness of assessing the R132H IDH1 mutation in glioma patients: the presence or absence of the R132H mutation can help pathologists to distinguish pilocytic astrocytomas (IDH1 WT) from diffuse ones (R132H IDH1/WT). 23934769 2014