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: rs869312661
rs869312661
0.925 0.160 X 49075135 splice donor variant C/T snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
0.700 0