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: C0032463
Disease:
Polycythemia Vera
0.010 GeneticVariation BEFREE IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; post-PMF AML). 20410924 2010