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: rs5070
rs5070
5 0.882 0.160 11 116837304 intron variant A/G snv 0.56 0.60 0.010 1.000 1 2018 2018
dbSNP: rs559110055
rs559110055
2 0.925 0.160 9 104840491 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2005 2005
dbSNP: rs7528419
rs7528419
13 0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2009 2015
dbSNP: rs4977574
rs4977574
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.020 1.000 2 2013 2014
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs10507391
rs10507391
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs1333047
rs1333047
9 0.790 0.240 9 22124505 intron variant A/T snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2017 2017
dbSNP: rs622064
rs622064
3 0.882 0.240 11 73961529 intron variant C/A snv 0.30 0.010 < 0.001 1 2016 2016
dbSNP: rs76863441
rs76863441
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs11638352
rs11638352
2 0.925 0.040 15 44000939 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1234314
rs1234314
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs4668123
rs4668123
6 0.851 0.280 2 169196995 missense variant C/A;G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs822442
rs822442
4 0.851 0.160 1 156913423 missense variant C/A;T snv 0.14; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs9818870
rs9818870
9 0.807 0.200 3 138403280 3 prime UTR variant C/A;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs11053646
rs11053646
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2010 2010
dbSNP: rs12696304
rs12696304
10 0.776 0.320 3 169763483 downstream gene variant C/G snv 0.38 0.010 < 0.001 1 2016 2016
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2015 2015
dbSNP: rs10811656
rs10811656
7 0.807 0.200 9 22124473 intron variant C/T snv 0.47 0.020 1.000 2 2013 2016
dbSNP: rs1129293
rs1129293
3 0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26 0.010 1.000 1 2017 2017