Source: CURATED

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: rs1057518759
rs1057518759
CDKL5
1.000 0.040 X 18604394 frameshift variant -/GC delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057518759
rs1057518759
CDKL5
1.000 0.040 X 18604394 frameshift variant -/GC delins
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 0