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: rs5030732
rs5030732
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 < 0.001 1 2006 2006
dbSNP: rs531564
rs531564
27 0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 0.010 < 0.001 1 2012 2012
dbSNP: rs588076
rs588076
1 1.000 0.080 11 85980619 intron variant G/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs6354
rs6354
16 0.732 0.280 17 30222880 5 prime UTR variant G/C;T snv 0.010 < 0.001 1 2020 2020
dbSNP: rs676134
rs676134
1 1.000 0.080 11 117309175 intron variant C/T snv 0.52 0.010 < 0.001 1 2008 2008
dbSNP: rs700519
rs700519
11 0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs7070570
rs7070570
1 1.000 0.080 10 66104846 intron variant A/G snv 0.26 0.010 < 0.001 1 2016 2016
dbSNP: rs7133914
rs7133914
7 0.790 0.120 12 40309109 missense variant G/A;T snv 8.5E-02; 1.6E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs7224199
rs7224199
7 0.827 0.160 17 30196708 3 prime UTR variant G/T snv 0.49 0.010 < 0.001 1 2020 2020
dbSNP: rs7308720
rs7308720
7 0.790 0.120 12 40263898 missense variant C/A;G snv 4.0E-06; 8.7E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs748703149
rs748703149
3 0.882 0.080 19 44908729 missense variant G/A;C;T snv 6.3E-06; 6.3E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs766647311
rs766647311
3 0.882 0.080 6 41159841 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs775144154
rs775144154
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs895897745
rs895897745
1 1.000 0.080 17 45991503 missense variant C/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs981058595
rs981058595
1 1.000 0.080 19 44908847 missense variant C/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.060 0.500 6 2005 2015
dbSNP: rs1366541089
rs1366541089
1 1.000 0.080 11 1754930 missense variant G/A snv 7.0E-06 0.040 0.500 4 2004 2015
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.020 0.500 2 2010 2013
dbSNP: rs1468425505
rs1468425505
APP
1 1.000 0.080 21 26022019 missense variant G/A snv 4.0E-06 0.020 0.500 2 2004 2006
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 0.500 2 2004 2016
dbSNP: rs1806201
rs1806201
8 0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24 0.020 0.500 2 2002 2010
dbSNP: rs1868402
rs1868402
1 1.000 0.080 2 68181905 intron variant G/A;T snv 0.020 0.500 2 2010 2014
dbSNP: rs2030324
rs2030324
6 0.827 0.120 11 27705368 intron variant A/G snv 0.49 0.020 0.500 2 2014 2017
dbSNP: rs2066714
rs2066714
13 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.020 0.500 2 2007 2012
dbSNP: rs2251101
rs2251101
IDE
3 0.882 0.160 10 92451547 downstream gene variant C/A;T snv 0.020 0.500 2 2011 2015