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: rs1564493599
rs1564493599
1.000 9 70598463 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0