Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060501859
rs1060501859
CDKL5
1 1.000 0.160 X 18598460 splice acceptor variant A/G snv 0.700 0