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: rs11728985
rs11728985
3 0.925 0.040 4 129115280 3 prime UTR variant C/T snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2008 2008
dbSNP: rs11829119
rs11829119
4 0.851 0.040 12 19040597 intergenic variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11904814
rs11904814
5 0.851 0.080 2 207562074 intron variant T/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs11924809
rs11924809
3 0.925 0.040 3 186353656 intron variant G/A snv 5.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs11989919
rs11989919
3 0.882 0.040 8 32645107 intron variant T/C snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs11990063
rs11990063
3 0.925 0.040 8 10307685 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs120074175
rs120074175
7 0.827 0.080 12 72031544 missense variant G/A snv 1.2E-05 7.0E-06 0.030 1.000 3 2006 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs12278912
rs12278912
3 0.882 0.040 11 124742263 intron variant G/A snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs12476147
rs12476147
4 0.851 0.040 2 184936178 missense variant A/T snv 0.66 0.59 0.010 1.000 1 2018 2018
dbSNP: rs12555870
rs12555870
3 0.925 0.040 9 23347726 intron variant A/G snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs12649507
rs12649507
4 0.851 0.080 4 55514317 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12720071
rs12720071
7 0.807 0.200 6 88141462 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2008 2008
dbSNP: rs130058
rs130058
8 0.790 0.120 6 77463564 5 prime UTR variant T/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1352618632
rs1352618632
2 0.925 0.040 13 33112802 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.030 1.000 3 2014 2019
dbSNP: rs139438618
rs139438618
5 0.882 0.080 7 84008281 intron variant A/G snv 5.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs139459337
rs139459337
3 0.882 0.040 3 114997018 intron variant C/T snv 4.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs1401635
rs1401635
4 0.925 0.040 11 27672444 intron variant C/G snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs140504
rs140504
3 0.882 0.040 22 23285182 missense variant A/G snv 0.81 0.86 0.010 1.000 1 2005 2005
dbSNP: rs1411216
rs1411216
3 0.925 0.040 9 24520196 intergenic variant A/G snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs1415088003
rs1415088003
ACE
7 0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2002 2002