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: rs1057516447
rs1057516447
PPT1
1 1.000 0.120 1 40092080 stop gained G/T snv 0.700 0
dbSNP: rs1057516575
rs1057516575
PPT1
1 1.000 0.120 1 40074160 frameshift variant -/A delins 0.700 1.000 1 2000 2000
dbSNP: rs1057516889
rs1057516889
PPT1
1 1.000 0.120 1 40078632 frameshift variant -/T delins 4.0E-06 0.700 0
dbSNP: rs1057517049
rs1057517049
PPT1
1 1.000 0.120 1 40092109 frameshift variant -/AAGT delins 0.700 0
dbSNP: rs1057517112
rs1057517112
PPT1
1 1.000 0.120 1 40097185 frameshift variant TCCATGG/- delins 0.700 0
dbSNP: rs1057517192
rs1057517192
PPT1
1 1.000 0.120 1 40092448 frameshift variant T/- delins 0.700 0
dbSNP: rs1057517368
rs1057517368
PPT1
1 1.000 0.120 1 40097113 splice donor variant A/T snv 0.700 0
dbSNP: rs1057517401
rs1057517401
PPT1
1 1.000 0.120 1 40092044 splice donor variant C/T snv 0.700 0
dbSNP: rs1085307087
rs1085307087
PPT1
1 1.000 0.120 1 40097238 start lost T/C snv 0.700 1.000 2 1998 1998
dbSNP: rs1265044710
rs1265044710
PPT1
1 1.000 0.120 1 40080396 splice donor variant C/A snv 4.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs1349528345
rs1349528345
PPT1
1 1.000 0.120 1 40076863 frameshift variant -/T delins 7.0E-06 0.700 1.000 2 2000 2013
dbSNP: rs137852695
rs137852695
PPT1
4 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.800 1.000 9 1995 2016
dbSNP: rs137852696
rs137852696
PPT1
3 0.882 0.120 1 40092409 missense variant T/G snv 1.6E-05 5.6E-05 0.800 1.000 9 1995 2013
dbSNP: rs137852697
rs137852697
PPT1
1 1.000 0.120 1 40092171 missense variant T/C snv 4.0E-06 0.800 1.000 7 1995 2012
dbSNP: rs137852698
rs137852698
PPT1
2 0.925 0.120 1 40078630 missense variant A/T snv 0.800 1.000 7 1995 2012
dbSNP: rs137852699
rs137852699
PPT1
1 1.000 0.120 1 40097210 stop gained A/T snv 8.0E-05 4.2E-05 0.700 1.000 9 1998 2014
dbSNP: rs137852700
rs137852700
PPT1
4 0.851 0.120 1 40089495 stop gained G/A;C snv 2.4E-04; 1.2E-05 0.710 1.000 4 1998 2013
dbSNP: rs137852701
rs137852701
PPT1
1 1.000 0.120 1 40092085 missense variant C/G snv 0.800 1.000 7 1995 2012
dbSNP: rs137852702
rs137852702
PPT1
1 1.000 0.120 1 40092498 missense variant C/T snv 0.800 1.000 7 1995 2012
dbSNP: rs148412181
rs148412181
PPT1
3 0.882 0.120 1 40080483 missense variant C/A;T snv 1.2E-05; 8.8E-05 0.800 1.000 17 1995 2017
dbSNP: rs1553166135
rs1553166135
PPT1
1 1.000 0.120 1 40074147 stop gained G/A snv 0.700 0
dbSNP: rs1553166147
rs1553166147
PPT1
1 1.000 0.120 1 40074185 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1553166337
rs1553166337
PPT1
1 1.000 0.120 1 40076840 splice donor variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1553166499
rs1553166499
PPT1
1 1.000 0.120 1 40078565 frameshift variant A/- delins 0.700 0
dbSNP: rs1553167415
rs1553167415
PPT1
1 1.000 0.120 1 40091328 splice donor variant C/T snv 0.700 0