KIF5B, kinesin family member 5B, 3799

N. diseases: 67; N. variants: 2
Disease: Global developmental delay ×
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: rs1114167297
rs1114167297 		0.851 0.160 10 32019912 missense variant T/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0