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: 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: rs386833627
rs386833627
PPT1
1 1.000 0.120 1 40097122 missense variant A/T snv 0.800 1.000 7 1995 2012
dbSNP: rs386833642
rs386833642
PPT1
1 1.000 0.120 1 40092082 missense variant A/C snv 4.0E-06 7.0E-06 0.800 1.000 7 1995 2012
dbSNP: rs386833646
rs386833646
PPT1
1 1.000 0.120 1 40091349 missense variant G/A snv 2.0E-05 4.9E-05 0.700 1.000 7 1995 2012
dbSNP: rs386833647
rs386833647
PPT1
1 1.000 0.120 1 40089491 missense variant C/T snv 0.800 1.000 7 1995 2012
dbSNP: rs386833657
rs386833657
PPT1
1 1.000 0.120 1 40080464 missense variant T/C snv 0.800 1.000 7 1995 2012
dbSNP: rs386833658
rs386833658
PPT1
1 1.000 0.120 1 40080458 missense variant G/A;C snv 4.0E-06 0.800 1.000 7 1995 2012
dbSNP: rs386833661
rs386833661
PPT1
1 1.000 0.120 1 40078621 missense variant A/G snv 1.4E-05 0.800 1.000 7 1995 2012
dbSNP: rs386833663
rs386833663
PPT1
1 1.000 0.120 1 40078603 missense variant A/C snv 0.800 1.000 7 1995 2012
dbSNP: rs386833665
rs386833665
PPT1
1 1.000 0.120 1 40076901 missense variant A/G snv 8.0E-06 0.800 1.000 7 1995 2012
dbSNP: rs386833666
rs386833666
PPT1
1 1.000 0.120 1 40076891 missense variant C/A;T snv 0.800 1.000 7 1995 2012
dbSNP: rs386833669
rs386833669
PPT1
1 1.000 0.120 1 40074096 missense variant A/G snv 7.0E-06 0.800 1.000 7 1995 2012
dbSNP: rs386833671
rs386833671
PPT1
1 1.000 0.120 1 40074068 missense variant A/C;G snv 0.800 1.000 7 1995 2012
dbSNP: rs386833655
rs386833655
PPT1
1 1.000 0.120 1 40080474 missense variant C/T snv 1.6E-05 1.4E-05 0.700 1.000 5 1998 2006
dbSNP: rs386833662
rs386833662
PPT1
1 1.000 0.120 1 40078612 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs878853322
rs878853322
PPT1
4 0.925 0.160 1 40078573 missense variant G/A snv 0.700 0
dbSNP: rs878853323
rs878853323
PPT1
4 0.882 0.160 1 40092499 missense variant A/G snv 0.700 0
dbSNP: rs878853324
rs878853324
PPT1
5 0.882 0.160 1 40078579 missense variant A/T snv 0.700 0
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: rs1553166337
rs1553166337
PPT1
1 1.000 0.120 1 40076840 splice donor variant A/G snv 0.700 1.000 1 2014 2014
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: rs1553167415
rs1553167415
PPT1
1 1.000 0.120 1 40091328 splice donor variant C/T snv 0.700 0
dbSNP: rs386833628
rs386833628
PPT1
1 1.000 0.120 1 40097114 splice donor variant C/T snv 7.0E-06 0.700 0