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: rs879922
rs879922
4 0.882 0.160 X 15572684 intron variant C/G snv 0.030 1.000 3 2018 2019
dbSNP: rs1012841819
rs1012841819
4 0.882 0.160 2 96115728 missense variant G/A snv 4.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs1037733674
rs1037733674
5 0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05 0.020 1.000 2 1998 1999
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2010 2011
dbSNP: rs10501367
rs10501367
2 1.000 0.040 11 57238113 upstream gene variant T/C snv 0.73 0.020 1.000 2 2010 2016
dbSNP: rs11191548
rs11191548
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.020 1.000 2 2012 2013
dbSNP: rs1126742
rs1126742
4 0.925 0.040 1 46932824 missense variant A/G snv 0.17 0.20 0.020 1.000 2 2008 2017
dbSNP: rs11739136
rs11739136
10 0.827 0.200 5 170383792 missense variant C/T snv 9.9E-02 8.7E-02 0.020 1.000 2 2017 2019
dbSNP: rs1212768461
rs1212768461
2 1.000 0.040 9 132897292 missense variant T/A;C snv 1.4E-05 0.020 1.000 2 2008 2012
dbSNP: rs12720742
rs12720742
ACE
1 1.000 0.040 17 63496923 missense variant C/G;T snv 2.4E-05; 3.2E-04 0.020 1.000 2 1998 2004
dbSNP: rs1334899057
rs1334899057
4 0.882 0.160 20 23035908 missense variant T/C snv 7.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs1462059537
rs1462059537
4 0.882 0.160 4 147535944 missense variant C/T snv 8.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs17249754
rs17249754
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.020 1.000 2 2016 2019
dbSNP: rs1800780
rs1800780
2 0.925 0.120 7 151001791 intron variant A/G snv 0.58 0.56 0.020 1.000 2 2013 2014
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2013 2017
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2013 2017
dbSNP: rs2011616
rs2011616
2 1.000 0.040 2 27079693 intron variant G/A snv 0.37 0.020 1.000 2 2009 2010
dbSNP: rs2074192
rs2074192
9 0.827 0.160 X 15564667 intron variant C/T snv 0.40 0.020 1.000 2 2018 2019
dbSNP: rs2254524
rs2254524
2 1.000 0.040 21 46194555 missense variant A/C;T snv 0.66; 1.6E-05 0.020 1.000 2 2016 2019
dbSNP: rs2604204
rs2604204
3 0.882 0.120 11 128917535 3 prime UTR variant G/T snv 0.74 0.020 1.000 2 2013 2017
dbSNP: rs2960306
rs2960306
1 1.000 0.040 4 2988772 missense variant G/A;T snv 4.8E-05; 0.32 0.020 1.000 2 2006 2016
dbSNP: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.020 1.000 2 2002 2006
dbSNP: rs3761581
rs3761581
5 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 0.020 0.500 2 2010 2016
dbSNP: rs3918181
rs3918181
2 0.925 0.120 7 151004695 intron variant G/A snv 0.35 0.020 0.500 2 2013 2014
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2005 2014