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: rs10447760
rs10447760
4 0.851 0.040 7 114083210 upstream gene variant C/T snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs10494251
rs10494251
4 0.851 0.040 1 147552120 intron variant C/T snv 5.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs10514299
rs10514299
6 0.827 0.120 5 88367793 intron variant C/T snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs10748842
rs10748842
8 0.807 0.120 10 81889983 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs11178997
rs11178997
5 0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs11568817
rs11568817
8 0.790 0.120 6 77463665 5 prime UTR variant A/C snv 0.37 0.010 1.000 1 2009 2009
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: rs11904814
rs11904814
5 0.851 0.080 2 207562074 intron variant T/G snv 0.30 0.010 1.000 1 2017 2017
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: 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: 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: 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: 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: 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
dbSNP: rs1432441
rs1432441
3 0.882 0.040 15 66426943 intron variant G/A snv 0.27 0.010 1.000 1 2017 2017