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: rs864309676
rs864309676
0.851 0.120 6 132472372 missense variant T/G snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2016 2016