Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1567379470
rs1567379470
STX1B
16 31001195 splice acceptor variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0