WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2015 2015
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
dbSNP: rs782557596
rs782557596 		1.000 0.080 X 49075239 stop gained G/A;C snv 2.7E-05 1.9E-05
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019