OXCT1, 3-oxoacid CoA-transferase 1, 5019

N. diseases: 33; N. variants: 13
Disease: Ketonuria ×
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: rs7712274
rs7712274 		1.000 0.040 5 41773628 intron variant T/A;C snv
CUI: C0162275
Disease: Ketonuria
Ketonuria 		Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019