WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: Salaam 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: rs797046101
rs797046101 		0.851 0.280 X 49076469 stop gained G/A snv
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		Nervous System Diseases 0.010 1.000 1 2015 2015