rs121913499, IDH1

N. diseases: 51
Disease: Spindle cell hemangioma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spindle cell hemangioma
CUI: C1304508
Disease: Spindle cell hemangioma
0.010 GeneticVariation BEFREE The R132C IDH1 mutation was identified by hydrolysis probes assay and confirmed by Sanger sequencing in 18 of 28 (64%) SCHs; of the 10 negative cases, 2 harbored a mutation in IDH2 (R172T and R172M) by Sanger sequencing. 23485734 2013