IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913499
rs121913499
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0008479
Disease:
Chondrosarcoma
0.010 GeneticVariation BEFREE Of the 13 chondrosarcomas analyzed, six (46.1%) displayed IDH1/2 mutations (the predominant type was IDH1 R132C). 22323113 2012