rs121918248, 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 Aciduria due to Methylmalonyl-CoA Mutase Deficiency
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
169 0.925 0.080 6 49459415 stop gained G/A snv 2.1E-05 0.700 1.000 3 1987 2006
Methylmalonic Aciduria, mut(0) Type
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
11 0.925 0.080 6 49459415 stop gained G/A snv 2.1E-05 0.700 0