CRAT, carnitine O-acetyltransferase, 1384

N. diseases: 59; N. variants: 5
Disease: Seizures ×
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: rs141970897
rs141970897 		0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2020 2020
dbSNP: rs762425351
rs762425351 		0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2020 2020