SZT2, SZT2 subunit of KICSTOR complex, 23334

N. diseases: 72; N. variants: 17
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: rs1557569831
rs1557569831 		0.925 0.120 1 43431458 splice acceptor variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs746200792
rs746200792 		0.925 0.120 1 43437254 inframe deletion TGT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0