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: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs1397094538
rs1397094538
3 0.925 0.120 1 23367044 missense variant A/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1411832
rs1411832
2 1.000 0.040 10 106126497 intergenic variant C/T snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1424266770
rs1424266770
10 0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs17125721
rs17125721
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 1.000 1 2002 2002
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2014 2014
dbSNP: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs536551654
rs536551654
2 1.000 0.120 17 49511972 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.010 1.000 1 1998 1998
dbSNP: rs61748411
rs61748411
3 0.925 0.120 X 154031356 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2007 2007
dbSNP: rs63750577
rs63750577
8 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs63750852
rs63750852
8 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7127507
rs7127507
6 0.827 0.080 11 27693337 intron variant T/C snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs713041
rs713041
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2018 2018
dbSNP: rs74315408
rs74315408
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs744373
rs744373
8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs763868966
rs763868966
4 1.000 0.080 17 44911429 stop gained C/A;G;T snv 1.2E-05; 4.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs767543900
rs767543900
10 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs775129479
rs775129479
6 0.851 0.120 16 1791387 missense variant G/A;C;T snv 1.6E-05; 8.1E-06; 8.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs781587642
rs781587642
6 0.851 0.120 2 219250557 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs8074995
rs8074995
5 0.925 0.040 17 66796013 intron variant G/A snv 0.13 0.010 1.000 1 2011 2011