Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762479277
rs762479277
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE We identified five IDH1 mutations that were novel to AML: (1) c.299 G>A, p.R100Q; (2) c.311G>T, p.G104V; (3) c.322T>C, p.F108L; (4) c.356G>A, p.R119Q; and (5) c.388A>G, p.I130V. 24376688 2013