rs879253851, MMUT

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Methylmalonic acidemia
CUI: C0268583
Disease: Methylmalonic acidemia
35 1.000 0.080 6 49431784 frameshift variant CGGC/TTCCA delins 0.700 1.000 3 2000 2006
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
169 1.000 0.080 6 49431784 frameshift variant CGGC/TTCCA delins 0.700 1.000 1 2016 2016