Variant: rs864309722

present in Gene: MECOM present in Chromosome: 3 Position on Chromosome: 169100904 Alleles of this Variant: T/C

rs864309722 in MECOM gene and RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 PMID 26581901 2015 Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.