NUP214, nucleoporin 214, 8021

N. diseases: 62; N. variants: 16
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: rs1135402758
rs1135402758 		1.000 9 131199023 intron variant T/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0