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: rs869312826
rs869312826
0.882 0.080 1 1787378 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2016 2016