WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: Overgrowth ×
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: rs886041382
rs886041382 		0.925 0.080 X 49078077 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 10 2010 2017