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: rs386833644
rs386833644
PPT1
1 1.000 0.120 1 40091364 frameshift variant A/- del 0.700 1.000 1 1998 1998
dbSNP: rs386833624
rs386833624
PPT1
1 1.000 0.120 1 40073532 3 prime UTR variant TGAT/- del 0.700 0
dbSNP: rs386833660
rs386833660
PPT1
1 1.000 0.120 1 40078642 frameshift variant T/- del 0.700 0
dbSNP: rs886041568
rs886041568
PPT1
1 1.000 0.120 1 40089491 frameshift variant C/- del 0.700 0
dbSNP: rs386833637
rs386833637
PPT1
1 1.000 0.120 1 40092150 inframe deletion AAG/- delins 1.4E-05 0.700 1.000 5 2000 2007
dbSNP: rs386833634
rs386833634
PPT1
2 0.925 0.120 1 40092462 frameshift variant -/T delins 3.2E-05; 4.0E-06; 4.0E-06 1.4E-05 0.700 1.000 3 1998 2012
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: rs1057516575
rs1057516575
PPT1
1 1.000 0.120 1 40074160 frameshift variant -/A delins 0.700 1.000 1 2000 2000
dbSNP: rs386833625
rs386833625
PPT1
1 1.000 0.120 1 40097125 frameshift variant C/- delins 0.700 1.000 1 2012 2012
dbSNP: rs386833635
rs386833635
PPT1
1 1.000 0.120 1 40092457 frameshift variant C/- delins 7.0E-06 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: rs1553166499
rs1553166499
PPT1
1 1.000 0.120 1 40078565 frameshift variant A/- delins 0.700 0
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: rs386833632
rs386833632
PPT1
1 1.000 0.120 1 40092494 splice acceptor variant -/ACA delins 0.700 0
dbSNP: rs386833638
rs386833638
PPT1
1 1.000 0.120 1 40092120 protein altering variant CACACTGTTGTTACTTG/AA delins 0.700 0
dbSNP: rs386833653
rs386833653
PPT1
1 1.000 0.120 1 40080485 splice acceptor variant -/G delins 0.700 0
dbSNP: rs386833667
rs386833667
PPT1
1 1.000 0.120 1 40076865 stop gained -/T delins 0.700 0
dbSNP: rs762226836
rs762226836
PPT1
1 1.000 0.120 1 40097198 frameshift variant CCAAGAGCCACAG/-;CCAAGAGCCACAGCCAAGAGCCACAG delins 0.700 0
dbSNP: rs878853325
rs878853325
PPT1
6 0.851 0.240 1 40089414 frameshift variant C/- delins 0.700 0
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