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: rs587777317
rs587777317
USP9X
1 1.000 X 41218440 missense variant T/A snv 0.800 1.000 1 2014 2014
dbSNP: rs587777319
rs587777319
USP9X
1 1.000 X 41219135 missense variant C/A;T snv 5.5E-06 0.700 1.000 1 2014 2014
dbSNP: rs1569165417
rs1569165417
USP9X
2 0.925 X 41140672 missense variant T/C snv 0.700 0
dbSNP: rs587777318
rs587777318
USP9X
1 1.000 X 41230595 frameshift variant A/- del 0.700 0