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: rs1187120
rs1187120
3 0.925 0.040 6 34182850 intergenic variant T/C snv 0.99 0.010 1.000 1 2015 2015
dbSNP: rs11887120
rs11887120
4 0.882 0.080 2 25262866 intron variant C/T snv 0.45 0.010 < 0.001 1 2016 2016
dbSNP: rs1206642175
rs1206642175
3 0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121912433
rs121912433
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121912456
rs121912456
6 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs13333659
rs13333659
2 1.000 0.040 16 88972472 intron variant G/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1372439127
rs1372439127
GRN
3 0.925 0.080 17 44352420 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1396086494
rs1396086494
APP
6 0.851 0.080 21 26051069 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs139650807
rs139650807
3 0.925 0.080 14 22875867 missense variant T/A;C snv 6.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs1427575965
rs1427575965
3 0.925 0.120 2 70212796 missense variant G/A snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1557372
rs1557372
2 1.000 0.040 21 41460614 downstream gene variant C/T snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs157582
rs157582
8 0.851 0.160 19 44892962 intron variant C/T snv 0.24 0.29 0.010 1.000 1 2019 2019
dbSNP: rs16885997
rs16885997
1 8 114496877 intergenic variant G/T snv 3.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs16947151
rs16947151
4 0.882 0.080 17 49213276 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs17070145
rs17070145
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs17518584
rs17518584
8 0.827 0.160 3 85555773 intron variant C/T snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs17601241
rs17601241
2 1.000 0.040 15 51215677 intron variant G/A snv 0.11 8.6E-02 0.010 1.000 1 2009 2009
dbSNP: rs17641411
rs17641411
1 4 46941670 intron variant C/T snv 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs17746510
rs17746510
5 0.882 0.080 2 173019562 intron variant T/C;G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2011 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs193922916
rs193922916
APP
6 0.827 0.080 21 25897619 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs2071430
rs2071430
MX1
7 0.807 0.320 21 41426138 5 prime UTR variant G/T snv 0.15 0.010 1.000 1 2012 2012