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: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.040 1.000 4 2010 2017
dbSNP: rs10101195
rs10101195
1 1.000 0.120 8 11765703 upstream gene variant C/A snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs13072484
rs13072484
1 1.000 0.120 3 197409951 intergenic variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs13302855
rs13302855
3 0.882 0.200 9 27595997 intergenic variant C/T snv 7.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs1595014
rs1595014
3 0.882 0.120 7 12148903 intergenic variant T/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs363324
rs363324
2 0.925 0.120 10 117229651 intergenic variant G/A snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs363371
rs363371
5 0.882 0.120 10 117226885 TF binding site variant G/A snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs6108746
rs6108746
1 1.000 0.120 20 10922123 intron variant T/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs1205185774
rs1205185774
4 0.882 0.120 14 77469161 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs449647
rs449647
2 0.925 0.120 19 44905307 upstream gene variant A/T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs769446
rs769446
6 0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs1223904774
rs1223904774
APP
8 0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 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 2012 2012
dbSNP: rs7240419
rs7240419
1 1.000 0.120 18 79168989 intron variant G/A snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs1980493
rs1980493
10 0.776 0.400 6 32395438 intron variant T/C snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs1181028283
rs1181028283
2 0.925 0.120 22 23766215 stop gained G/A snv 4.3E-06 0.010 1.000 1 2017 2017
dbSNP: rs3849942
rs3849942
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.020 1.000 2 2012 2018
dbSNP: rs2814707
rs2814707
4 0.882 0.120 9 27536399 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs778264897
rs778264897
2 0.925 0.120 16 2455540 missense variant A/G snv 3.2E-05 7.0E-05 0.020 1.000 2 2017 2018
dbSNP: rs148159882
rs148159882
2 0.925 0.120 16 2437263 missense variant G/A snv 5.2E-05 7.7E-05 0.010 1.000 1 2017 2017
dbSNP: rs2659030
rs2659030
1 1.000 0.120 17 81204174 intron variant G/A;T snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs2725391
rs2725391
1 1.000 0.120 17 81218630 intron variant C/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs906175
rs906175
1 1.000 0.120 17 81199662 non coding transcript exon variant C/T snv 0.37 0.700 1.000 1 2015 2015