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: rs1043679457
rs1043679457
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1057516264
rs1057516264
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 0.700 0
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: rs146539065
rs146539065
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs1554901898
rs1554901898
12 0.776 0.280 11 6616858 frameshift variant A/- delins 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: rs1555706928
rs1555706928
8 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
dbSNP: rs28936415
rs28936415
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs672601366
rs672601366
6 0.851 0.120 2 240786339 missense variant C/G snv 0.700 0
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: rs776969714
rs776969714
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs796052243
rs796052243
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs80338700
rs80338700
7 0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs864309505
rs864309505
10 0.807 0.200 11 6615220 missense variant T/G snv 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: rs878853325
rs878853325
6 0.851 0.240 1 40089414 frameshift variant C/- delins 0.700 0
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: 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: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 < 0.001 1 2016 2016