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: rs672601332
rs672601332
EXOSC3 ; TRMT10B
1 1.000 9 37780795 missense variant A/G snv 0.810 0.500 2 2012 2017
dbSNP: rs387907195
rs387907195
EXOSC3
1 1.000 9 37783973 missense variant C/G snv 8.0E-06 0.800 1.000 1 2012 2012
dbSNP: rs387907196
rs387907196
EXOSC3
12 0.807 0.080 9 37784953 missense variant C/G snv 2.0E-05 0.800 1.000 1 2012 2012
dbSNP: rs141138948
rs141138948
EXOSC3
9 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.700 1.000 5 2012 2018
dbSNP: rs374550999
rs374550999
EXOSC3
2 0.925 0.080 9 37784807 missense variant C/A;G snv 1.5E-04 0.700 1.000 2 2013 2015
dbSNP: rs1566696845
rs1566696845
VRK1
1 1.000 14 96833625 splice donor variant TCTTGGTA/- delins 0.700 0
dbSNP: rs587780333
rs587780333
EXOSC3
1 1.000 9 37784933 frameshift variant C/- delins 4.1E-06 1.4E-05 0.700 0
dbSNP: rs672601331
rs672601331
EXOSC3
1 1.000 9 37784742 frameshift variant AGTAAACACC/- delins 0.700 0
dbSNP: rs730882145
rs730882145
EXOSC3
1 1.000 9 37782041 missense variant C/A;T snv 1.2E-05 0.700 0
dbSNP: rs797045567
rs797045567
EXOSC3
1 1.000 9 37782040 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs886041316
rs886041316
EXOSC3
1 1.000 9 37784890 frameshift variant G/- delins 8.6E-06 1.4E-05 0.700 0