rs752898811, 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 49453645 frameshift variant -/T delins 8.0E-06; 1.6E-05 0.700 1.000 2 2005 2006
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 49453645 frameshift variant -/T delins 8.0E-06; 1.6E-05 0.700 1.000 1 2006 2006