Gene: CDKL5 ×
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: rs1555951954
rs1555951954
CDKL5
1 X 18604030 frameshift variant AAACCTTGCTGGAG/- delins 0.700 1.000 17 2004 2016
dbSNP: rs786204963
rs786204963
CDKL5
3 0.925 0.080 X 18588055 missense variant A/C snv 0.700 1.000 17 2004 2016
dbSNP: rs786204967
rs786204967
CDKL5
2 1.000 0.040 X 18604169 frameshift variant AG/- delins 0.700 1.000 17 2004 2016