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: rs1057518963
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0