EXT2, exostosin glycosyltransferase 2, 2132

N. diseases: 137; N. variants: 34
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: rs527624522
rs527624522 		0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0