rs121918252, MMUT

N. diseases: 3
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 49431831 missense variant C/A snv 4.8E-05 2.1E-04 0.800 1.000 22 1990 2017
Methylmalonic acidemia
CUI: C0268583
Disease: Methylmalonic acidemia
35 0.925 0.080 6 49431831 missense variant C/A snv 4.8E-05 2.1E-04 0.700 1.000 2 2006 2016
Methylmalonic Aciduria, mut(-) Type
CUI: C1855116
Disease: Methylmalonic Aciduria, mut(-) Type
2 0.925 0.080 6 49431831 missense variant C/A snv 4.8E-05 2.1E-04 0.700 0