Source: BEFREE

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: rs121909299
rs121909299
OXCT1
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 		0.710 1.000 1 1996 1996
dbSNP: rs1014048269
rs1014048269
OXCT1
1.000 0.040 5 41805681 missense variant G/A;C snv 4.0E-06
CUI: C0022638
Disease: Ketosis
Ketosis 		0.010 1.000 1 2017 2017