MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
Disease: Methylmalonic Aciduria, mut(-) Type ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918252
rs121918252 		0.925 0.080 6 49431831 missense variant C/A snv 4.8E-05 2.1E-04
CUI: C1855116
Disease: Methylmalonic Aciduria, mut(-) Type
Methylmalonic Aciduria, mut(-) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918253
rs121918253 		0.925 0.080 6 49459118 stop gained C/A snv
CUI: C1855116
Disease: Methylmalonic Aciduria, mut(-) Type
Methylmalonic Aciduria, mut(-) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0