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: rs1553730872
rs1553730872
TBC1D23
2 0.925 3 100310462 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1553730885
rs1553730885
TBC1D23
2 0.925 3 100310515 frameshift variant T/AA delins 0.700 1.000 1 2017 2017
dbSNP: rs1553731605
rs1553731605
TBC1D23
2 0.925 3 100316189 splice donor variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1262829922
rs1262829922
ITPR1
2 0.925 0.040 3 4815189 missense variant A/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1377295140
rs1377295140
RARS2
2 0.925 0.040 6 87545699 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs141138948
rs141138948
EXOSC3
9 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs1471646898
rs1471646898
EXOSC3
2 0.925 0.040 9 37783984 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs387907196
rs387907196
EXOSC3
12 0.807 0.080 9 37784953 missense variant C/G snv 2.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs750731609
rs750731609
AIMP1
3 0.882 0.080 4 106327501 frameshift variant A/- delins 3.2E-05 7.0E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs868010710
rs868010710
VRK1
4 0.851 0.080 14 96833502 missense variant A/G snv 0.010 1.000 1 2014 2014