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: rs386833638
rs386833638
PPT1
1 1.000 0.120 1 40092120 protein altering variant CACACTGTTGTTACTTG/AA delins 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: 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: rs1085307087
rs1085307087
PPT1
1 1.000 0.120 1 40097238 start lost T/C snv 0.700 1.000 2 1998 1998
dbSNP: rs796052927
rs796052927
PPT1
1 1.000 0.120 1 40097237 start lost A/G 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: rs386833643
rs386833643
PPT1
1 1.000 0.120 1 40091402 splice region variant A/C snv 0.700 0
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: rs1553166147
rs1553166147
PPT1
1 1.000 0.120 1 40074185 splice acceptor variant T/C 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: 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: rs386833653
rs386833653
PPT1
1 1.000 0.120 1 40080485 splice acceptor variant -/G delins 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: 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: rs386833644
rs386833644
PPT1
1 1.000 0.120 1 40091364 frameshift variant A/- del 0.700 1.000 1 1998 1998
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