rs774159791, 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 49448861 stop gained G/A snv 6.8E-05 2.8E-05 0.700 1.000 6 2002 2016
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 49448861 stop gained G/A snv 6.8E-05 2.8E-05 0.700 1.000 5 2002 2012