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: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.040 1.000 4 2004 2016
dbSNP: rs1948
rs1948
5 0.827 0.160 15 78625057 synonymous variant A/G;T snv 0.69 0.020 1.000 2 2017 2018
dbSNP: rs2236196
rs2236196
1 1.000 0.080 20 63346204 3 prime UTR variant G/A;C snv 0.71 0.020 1.000 2 2005 2009
dbSNP: rs2472553
rs2472553
1 1.000 0.080 8 27470994 missense variant G/A;T snv 0.17 0.020 1.000 2 2014 2014
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2015 2015
dbSNP: rs880395
rs880395
2 1.000 0.080 15 78552014 3 prime UTR variant A/G;T snv 0.020 1.000 2 2017 2018
dbSNP: rs10865246
rs10865246
1 1.000 0.080 2 50443116 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs1162419578
rs1162419578
APP
2 0.925 0.160 21 25975126 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1187272
rs1187272
1 1.000 0.080 9 84789171 intron variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs12519
rs12519
1 1.000 0.080 9 89013167 3 prime UTR variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs130058
rs130058
8 0.790 0.120 6 77463564 5 prime UTR variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs13286166
rs13286166
1 1.000 0.080 9 741307 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1329650
rs1329650
6 0.882 0.080 10 91588363 regulatory region variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1465781973
rs1465781973
1 1.000 0.080 11 113395026 missense variant C/T snv 2.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs1800955
rs1800955
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2072660
rs2072660
1 1.000 0.080 1 154576245 3 prime UTR variant T/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs2184026
rs2184026
1 1.000 0.080 9 98542066 intron variant C/G;T snv 0.25 0.010 1.000 1 2005 2005
dbSNP: rs2242449
rs2242449
2 1.000 0.080 17 7192188 non coding transcript exon variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs2273504
rs2273504
1 1.000 0.080 20 63356709 intron variant G/A;T snv 0.010 1.000 1 2005 2005
dbSNP: rs2279343
rs2279343
8 0.776 0.200 19 41009358 missense variant A/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs2302763
rs2302763
1 1.000 0.080 17 7455958 intron variant T/C;G snv 0.18 0.010 1.000 1 2006 2006
dbSNP: rs2653349
rs2653349
5 0.882 0.120 6 55277539 missense variant A/G;T snv 0.84; 4.0E-06 0.010 1.000 1 2015 2015