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: rs4935774
rs4935774
2 0.925 0.080 11 121451045 intron variant T/C snv 0.32 0.010 1.000 1 2014 2014
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: rs730882147
rs730882147
5 0.851 0.080 6 41909351 missense variant C/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs772037717
rs772037717
8 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs895293055
rs895293055
5 0.851 0.080 6 41909351 frameshift variant C/- delins 0.010 1.000 1 2015 2015
dbSNP: rs749203329
rs749203329
7 0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs10761482
rs10761482
4 0.851 0.120 10 60325579 intron variant T/C snv 0.70 0.010 1.000 1 2016 2016
dbSNP: rs1133174
rs1133174
3 0.882 0.120 11 121631046 3 prime UTR variant G/A snv 0.55 0.010 1.000 1 2014 2014
dbSNP: rs1193124736
rs1193124736
APP
4 0.851 0.120 21 25982462 missense variant G/T snv 7.0E-06 0.010 1.000 1 2014 2014
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: rs2298813
rs2298813
7 0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs9637454
rs9637454
3 0.882 0.120 3 178539774 intron variant G/A snv 0.23 0.010 < 0.001 1 2016 2016
dbSNP: rs672601366
rs672601366
6 0.851 0.120 2 240786339 missense variant C/G snv 0.700 0
dbSNP: rs63750231
rs63750231
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.020 1.000 2 2012 2013
dbSNP: rs796052019
rs796052019
3 0.882 0.160 13 100157297 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs908867
rs908867
7 0.851 0.160 11 27724217 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs139632595
rs139632595
19 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
dbSNP: rs1554902217
rs1554902217
7 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
dbSNP: rs1555642784
rs1555642784
5 0.851 0.160 17 42688979 frameshift variant -/C delins 0.700 0
dbSNP: rs878853322
rs878853322
4 0.925 0.160 1 40078573 missense variant G/A snv 0.700 0
dbSNP: rs878853323
rs878853323
4 0.882 0.160 1 40092499 missense variant A/G snv 0.700 0
dbSNP: rs878853324
rs878853324
5 0.882 0.160 1 40078579 missense variant A/T snv 0.700 0
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 < 0.001 1 2016 2016
dbSNP: rs7354779
rs7354779
6 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs769236847
rs769236847
8 0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 0.010 1.000 1 2019 2019