OXCT1, 3-oxoacid CoA-transferase 1, 5019

N. diseases: 33; N. variants: 13
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: rs121909300
rs121909300
1.000 0.040 5 41749579 missense variant C/A snv
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Nutritional and Metabolic Diseases 0.800 1.000 3 1998 2011
dbSNP: rs121909301
rs121909301
1.000 0.040 5 41803148 missense variant C/T snv 8.0E-06 7.0E-06
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Nutritional and Metabolic Diseases 0.800 1.000 3 1998 2011
dbSNP: rs121909302
rs121909302
1.000 0.040 5 41842690 missense variant C/T snv
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Nutritional and Metabolic Diseases 0.800 1.000 3 1998 2011
dbSNP: rs121909303
rs121909303
1.000 0.040 5 41842685 missense variant C/T snv 2.4E-05 2.1E-05
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Nutritional and Metabolic Diseases 0.800 1.000 3 1998 2011
dbSNP: rs121909299
rs121909299
1.000 0.040 5 41805674 stop gained G/C snv 4.0E-06
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Nutritional and Metabolic Diseases 0.710 1.000 1 1996 1996
dbSNP: rs201752548
rs201752548
1.000 0.040 5 41842702 missense variant G/A snv 1.6E-05
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2011
dbSNP: rs267606930
rs267606930
1.000 0.040 5 41853435 missense variant A/T snv
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2011
dbSNP: rs368841359
rs368841359
1.000 0.040 5 41840506 missense variant C/A;T snv 4.0E-06
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2011
dbSNP: rs1561128268
rs1561128268
1.000 0.040 5 41850170 missense variant C/G snv
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1327401976
rs1327401976
1.000 0.040 5 41749544 missense variant G/A snv 8.0E-06 7.0E-06
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1561081472
rs1561081472
1.000 0.040 5 41793998 splice region variant C/T snv
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Nutritional and Metabolic Diseases 0.700 0