rs200908035, MMUT

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 6 49457878 missense variant T/A;C snv 4.0E-06; 4.9E-04 0.800 1.000 20 1990 2017