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: rs376476266
rs376476266
NUP133
1 1.000 1 229450541 missense variant A/G snv 5.8E-05 6.3E-05 0.800 1.000 1 2018 2018
dbSNP: rs1558091788
rs1558091788
NUP133
1 1.000 1 229458219 missense variant A/C snv 0.700 1.000 1 2018 2018
dbSNP: rs1558108130
rs1558108130
NUP133
1 1.000 1 229498264 missense variant G/C snv 0.700 1.000 1 2018 2018