NUP107, nucleoporin 107, 57122

N. diseases: 98; N. variants: 8
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: rs730882216
rs730882216 		1.000 12 68690746 start lost G/A snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0