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: rs1555951954
rs1555951954
CDKL5
X 18604030 frameshift variant AAACCTTGCTGGAG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 17 2004 2016
dbSNP: rs786204963
rs786204963
CDKL5
0.925 0.080 X 18588055 missense variant A/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 17 2004 2016
dbSNP: rs786204967
rs786204967
CDKL5
1.000 0.040 X 18604169 frameshift variant AG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 17 2004 2016