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: rs1012826460
rs1012826460
2 0.925 0.120 17 45971888 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1182182524
rs1182182524
3 0.882 0.120 17 45983724 missense variant T/G snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1189501362
rs1189501362
4 0.882 0.120 3 119863583 missense variant G/A snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1205185774
rs1205185774
4 0.882 0.120 14 77469161 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs121909329
rs121909329
VCP
11 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.020 1.000 2 2008 2009
dbSNP: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.030 1.000 3 2005 2012
dbSNP: rs121909331
rs121909331
VCP
5 0.851 0.200 9 35064167 missense variant G/T snv 0.020 1.000 2 2009 2012
dbSNP: rs1235948930
rs1235948930
4 0.882 0.120 17 45983865 missense variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1295855402
rs1295855402
2 0.925 0.120 17 46024034 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1314736087
rs1314736087
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs139108915
rs139108915
3 0.925 0.120 9 36840599 missense variant G/A snv 1.0E-05 9.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs1401496725
rs1401496725
2 0.925 0.120 2 79121657 missense variant C/G;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1417373701
rs1417373701
2 0.925 0.120 5 102399606 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs143624519
rs143624519
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.020 1.000 2 2014 2018
dbSNP: rs1566650594
rs1566650594
4 0.851 0.120 14 73206384 splice acceptor variant A/T snv 0.700 1.000 3 2010 2017
dbSNP: rs1595014
rs1595014
3 0.882 0.120 7 12148903 intergenic variant T/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs1804469
rs1804469
2 0.925 0.120 10 46033495 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs3173615
rs3173615
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2013 2013
dbSNP: rs387906709
rs387906709
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs387906711
rs387906711
6 0.807 0.120 X 56565389 missense variant C/A;T snv 6.6E-06 0.010 1.000 1 2019 2019
dbSNP: rs387906789
rs387906789
VCP
14 0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs544706237
rs544706237
5 0.851 0.120 2 79121649 missense variant A/G;T snv 8.0E-06; 5.2E-05 0.010 1.000 1 2016 2016