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: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs148881970
rs148881970
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs1554317002
rs1554317002
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1555735545
rs1555735545
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs28937900
rs28937900
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs370717845
rs370717845
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
dbSNP: rs555145190
rs555145190
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
dbSNP: rs63751011
rs63751011
4 0.925 0.120 17 46010418 intron variant C/T snv 0.700 0
dbSNP: rs768823392
rs768823392
10 0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 0.700 0
dbSNP: rs80356702
rs80356702
9 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1977412
rs1977412
5 0.882 0.160 1 230716523 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2732260
rs2732260
5 0.882 0.200 8 33431749 intron variant G/A snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs11142387
rs11142387
7 9 70383416 downstream gene variant A/C snv 0.49 0.010 1.000 1 2017 2017
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