OXCT1, 3-oxoacid CoA-transferase 1, 5019

N. diseases: 20; N. variants: 2
Source: BEFREE ×
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: rs121909299
rs121909299 		1.000 0.040 5 41805674 stop gained G/C snv 4.0E-06
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		Nutritional and Metabolic Diseases 0.710 1.000 1 1996 1996
dbSNP: rs1014048269
rs1014048269 		1.000 0.040 5 41805681 missense variant G/A;C snv 4.0E-06
CUI: C0022638
Disease: Ketosis
Ketosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017