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: rs145473779
rs145473779
NUP93
1 1.000 16 56834768 missense variant G/T snv 1.2E-04 1.3E-04 0.800 1.000 1 2016 2016
dbSNP: rs757674160
rs757674160
NUP93
1 1.000 16 56836704 missense variant A/G snv 4.0E-06 0.800 1.000 1 2016 2016
dbSNP: rs145146218
rs145146218
NUP93
1 1.000 16 56831918 missense variant C/A;T snv 7.2E-04 0.800 0
dbSNP: rs1351580598
rs1351580598
NUP93
1 1.000 16 56834414 missense variant T/A snv 4.0E-06 0.700 0
dbSNP: rs138909849
rs138909849
NUP93
1 1.000 16 56833407 splice donor variant G/A snv 1.4E-05 0.700 0
dbSNP: rs869320695
rs869320695
NUP93
1 1.000 16 56832369 frameshift variant G/- del 0.700 0