WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: Seizures ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864309661
rs864309661 		1.000 0.080 X 49077715 inframe deletion CCA/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2012 2013
dbSNP: rs387907329
rs387907329 		0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs797046101
rs797046101 		0.851 0.280 X 49076469 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015