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: rs386833643
rs386833643
PPT1
1 1.000 0.120 1 40091402 splice region variant A/C snv 0.700 0
dbSNP: rs386833648
rs386833648
PPT1
1 1.000 0.120 1 40089490 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs386833651
rs386833651
PPT1
2 0.925 0.120 1 40089409 splice donor variant C/T snv 0.700 0
dbSNP: rs386833652
rs386833652
PPT1
1 1.000 0.120 1 40089408 splice donor variant A/G snv 4.0E-06 0.700 0
dbSNP: rs386833653
rs386833653
PPT1
1 1.000 0.120 1 40080485 splice acceptor variant -/G delins 0.700 0
dbSNP: rs386833654
rs386833654
PPT1
1 1.000 0.120 1 40080480 stop gained G/A snv 0.700 0
dbSNP: rs386833656
rs386833656
PPT1
1 1.000 0.120 1 40080466 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs386833660
rs386833660
PPT1
1 1.000 0.120 1 40078642 frameshift variant T/- del 0.700 0
dbSNP: rs386833662
rs386833662
PPT1
1 1.000 0.120 1 40078612 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs386833664
rs386833664
PPT1
1 1.000 0.120 1 40076915 splice acceptor variant T/A snv 4.0E-06 0.700 0
dbSNP: rs386833667
rs386833667
PPT1
1 1.000 0.120 1 40076865 stop gained -/T delins 0.700 0
dbSNP: rs386833668
rs386833668
PPT1
1 1.000 0.120 1 40074111 stop gained G/A snv 0.700 0
dbSNP: rs386833670
rs386833670
PPT1
1 1.000 0.120 1 40074094 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs747204624
rs747204624
PPT1
1 1.000 0.120 1 40097231 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs762226836
rs762226836
PPT1
1 1.000 0.120 1 40097198 frameshift variant CCAAGAGCCACAG/-;CCAAGAGCCACAGCCAAGAGCCACAG delins 0.700 0
dbSNP: rs796052925
rs796052925
PPT1
1 1.000 0.120 1 40091338 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs796052927
rs796052927
PPT1
1 1.000 0.120 1 40097237 start lost A/G snv 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: rs878853325
rs878853325
PPT1
6 0.851 0.240 1 40089414 frameshift variant C/- delins 0.700 0
dbSNP: rs878853929
rs878853929
PPT1
1 1.000 0.120 1 40076841 splice donor variant C/A snv 0.700 0
dbSNP: rs886041568
rs886041568
PPT1
1 1.000 0.120 1 40089491 frameshift variant C/- del 0.700 0
dbSNP: rs386833645
rs386833645
PPT1
2 0.925 0.120 1 40097236 start lost C/T snv 1.4E-05 0.700 1.000 4 1989 2007
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