rs1568307275, MAN2B1

N. diseases: 1
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 Aciduria due to Methylmalonyl-CoA Mutase Deficiency
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
169 1.000 0.080 19 12663736 frameshift variant -/AA ins 0.700 0