PPT1, palmitoyl-protein thioesterase 1, 5538

N. diseases: 112; N. variants: 90
Disease: Movement Disorders ×
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: rs137852695
rs137852695 		0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 0
dbSNP: rs143657539
rs143657539 		1 40092054 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 0