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: rs387907260
rs387907260
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs796052686
rs796052686
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0036572
Disease: Seizures
Seizures
0.700 0