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: rs387907329
rs387907329
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C1854882
Disease: Absent speech
Absent speech
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0