Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency ×
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: rs72552258
rs72552258 		1.000 0.080 14 74065249 missense variant C/T snv
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2000 2000
dbSNP: rs781767219
rs781767219 		1.000 0.080 14 74066773 stop gained G/A;T snv 5.2E-05 1.4E-05
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs796065046
rs796065046 		1.000 0.080 14 74072539 missense variant G/A snv
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs869320672
rs869320672 		1.000 0.080 14 74071411 missense variant A/G snv
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs879255579
rs879255579 		1.000 0.080 14 74068927 missense variant G/T snv
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0