Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909300
rs121909300
OXCT1
1.000 0.040 5 41749579 missense variant C/A snv
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.800 1.000 3 1998 2011
dbSNP: rs121909301
rs121909301
OXCT1
1.000 0.040 5 41803148 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.800 1.000 3 1998 2011
dbSNP: rs121909302
rs121909302
OXCT1
1.000 0.040 5 41842690 missense variant C/T snv
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.800 1.000 3 1998 2011
dbSNP: rs121909303
rs121909303
OXCT1
1.000 0.040 5 41842685 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.800 1.000 3 1998 2011
dbSNP: rs201752548
rs201752548
OXCT1
1.000 0.040 5 41842702 missense variant G/A snv 1.6E-05
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.700 1.000 3 1998 2011
dbSNP: rs267606930
rs267606930
OXCT1
1.000 0.040 5 41853435 missense variant A/T snv
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.700 1.000 3 1998 2011
dbSNP: rs368841359
rs368841359
OXCT1
1.000 0.040 5 41840506 missense variant C/A;T snv 4.0E-06
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.700 1.000 3 1998 2011
dbSNP: rs1327401976
rs1327401976
OXCT1
1.000 0.040 5 41749544 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.700 0