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: rs74315511
rs74315511
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C0036572
Disease: Seizures
Seizures
0.700 0