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: rs397507476
rs397507476
0.882 0.200 7 140778011 missense variant T/A;G snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 3 2006 2009