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: rs104894930
rs104894930
RS1 ; CDKL5
0.882 0.040 X 18642071 missense variant G/A snv
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		0.700 0