Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1469698992
rs1469698992
NUP214
8 0.776 0.080 9 131190453 missense variant G/A snv 0.010 < 0.001 1 1993 1993