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: rs267608420
rs267608420
CDKL5
1 1.000 0.160 X 18510818 splice region variant -/G delins 0.700 0