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: 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: rs386833649
rs386833649
PPT1
1 1.000 0.120 1 40089456 stop gained G/A snv 8.0E-06 0.700 1.000 4 1998 2012
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: rs1553166337
rs1553166337
PPT1
1 1.000 0.120 1 40076840 splice donor variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs386833659
rs386833659
PPT1
2 0.925 0.120 1 40078659 splice acceptor variant C/A;T snv 4.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs1057516447
rs1057516447
PPT1
1 1.000 0.120 1 40092080 stop gained G/T snv 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: 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: rs1553167415
rs1553167415
PPT1
1 1.000 0.120 1 40091328 splice donor variant C/T snv 0.700 0
dbSNP: rs1553167430
rs1553167430
PPT1
1 1.000 0.120 1 40091401 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1557714302
rs1557714302
PPT1
3 0.925 0.120 1 40092486 stop gained A/C 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
dbSNP: rs386833629
rs386833629
PPT1
1 1.000 0.120 1 40092522 intron variant A/C snv 4.0E-06 0.700 0
dbSNP: rs386833630
rs386833630
PPT1
1 1.000 0.120 1 40092509 splice acceptor variant T/C snv 0.700 0
dbSNP: rs386833633
rs386833633
PPT1
1 1.000 0.120 1 40092469 stop gained T/A snv 0.700 0
dbSNP: rs386833636
rs386833636
PPT1
1 1.000 0.120 1 40092175 splice region variant A/G snv 0.700 0
dbSNP: rs386833641
rs386833641
PPT1
1 1.000 0.120 1 40092097 stop gained T/A;C snv 1.2E-05 0.700 0
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: rs386833654
rs386833654
PPT1
1 1.000 0.120 1 40080480 stop gained G/A snv 0.700 0