rs121913500, IDH1

N. diseases: 96
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Atypical Lipoma
CUI: C1266129
Disease: Atypical Lipoma
0.010 GeneticVariation BEFREE Because many ALT tumors express the mutant isocitrate dehydrogenase IDH1 R132H, including all lower grade astrocytomas and secondary glioblastoma, we examined a hypothesized role for IDH1 R132H in driving the ALT phenotype during gliomagenesis. 29545335 2018