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: rs1553167474
rs1553167474
PPT1
1 1.000 0.120 1 40092069 frameshift variant C/- delins 0.700 0
dbSNP: rs1553167479
rs1553167479
PPT1
1 1.000 0.120 1 40092125 frameshift variant GT/- delins 0.700 0
dbSNP: rs1553167863
rs1553167863
PPT1
1 1.000 0.120 1 40097218 frameshift variant GCAG/- delins 0.700 0
dbSNP: rs1557714302
rs1557714302
PPT1
3 0.925 0.120 1 40092486 stop gained A/C snv 0.700 0
dbSNP: rs386833624
rs386833624
PPT1
1 1.000 0.120 1 40073532 3 prime UTR variant TGAT/- del 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: rs386833632
rs386833632
PPT1
1 1.000 0.120 1 40092494 splice acceptor variant -/ACA delins 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: rs386833638
rs386833638
PPT1
1 1.000 0.120 1 40092120 protein altering variant CACACTGTTGTTACTTG/AA delins 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: 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