ACSF3, acyl-CoA synthetase family member 3, 197322

N. diseases: 35; N. variants: 10
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: rs150487794
rs150487794 		1.000 0.080 16 89114436 missense variant G/A snv 6.7E-04 7.0E-04
CUI: C3280314
Disease: Combined Malonic and Methylmalonic Aciduria
Combined Malonic and Methylmalonic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2011 2016
dbSNP: rs141090143
rs141090143 		1.000 0.080 16 89154148 missense variant C/A;T snv 4.0E-06; 2.6E-03
CUI: C3280314
Disease: Combined Malonic and Methylmalonic Aciduria
Combined Malonic and Methylmalonic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2011 2016
dbSNP: rs387907119
rs387907119 		1.000 0.080 16 89145312 missense variant G/A snv 4.8E-05 7.0E-06
CUI: C3280314
Disease: Combined Malonic and Methylmalonic Aciduria
Combined Malonic and Methylmalonic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs387907120
rs387907120 		1.000 0.080 16 89114434 missense variant C/A;T snv
CUI: C3280314
Disease: Combined Malonic and Methylmalonic Aciduria
Combined Malonic and Methylmalonic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs387907121
rs387907121 		1.000 0.080 16 89101274 missense variant T/A;G snv 4.5E-06
CUI: C3280314
Disease: Combined Malonic and Methylmalonic Aciduria
Combined Malonic and Methylmalonic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs140986055
rs140986055 		1.000 0.080 16 89102665 missense variant C/T snv 6.8E-05 2.2E-04
CUI: C3280314
Disease: Combined Malonic and Methylmalonic Aciduria
Combined Malonic and Methylmalonic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs1362504214
rs1362504214 		1.000 0.080 16 89145285 missense variant A/C snv 8.0E-06 1.4E-05
CUI: C3280314
Disease: Combined Malonic and Methylmalonic Aciduria
Combined Malonic and Methylmalonic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs138680796
rs138680796 		1.000 0.080 16 89145311 missense variant C/T snv 3.2E-04 1.8E-04
CUI: C3280314
Disease: Combined Malonic and Methylmalonic Aciduria
Combined Malonic and Methylmalonic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387907118
rs387907118 		1.000 0.080 16 89146003 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C3280314
Disease: Combined Malonic and Methylmalonic Aciduria
Combined Malonic and Methylmalonic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs748382994
rs748382994 		1.000 0.080 16 89145305 stop gained C/G;T snv 2.8E-05 2.1E-05
CUI: C3280314
Disease: Combined Malonic and Methylmalonic Aciduria
Combined Malonic and Methylmalonic Aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0