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: rs1059702
rs1059702
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.010 < 0.001 1 2014 2014
dbSNP: rs1143679
rs1143679
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.010 < 0.001 1 2011 2011
dbSNP: rs143101792
rs143101792
CRP
5 0.851 0.320 1 159714026 stop gained G/C snv 8.8E-05 1.3E-04 0.010 < 0.001 1 2005 2005
dbSNP: rs17435
rs17435
4 0.851 0.200 X 154046529 intron variant T/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 < 0.001 1 2010 2010
dbSNP: rs2104286
rs2104286
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.010 < 0.001 1 2010 2010
dbSNP: rs374039502
rs374039502
4 0.925 0.160 13 108308037 3 prime UTR variant T/A snv 2.0E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs540386
rs540386
4 0.851 0.200 11 36503743 intron variant C/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs6822844
rs6822844
20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 < 0.001 1 2011 2011
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 < 0.001 1 2009 2009
dbSNP: rs873601
rs873601
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 < 0.001 1 2016 2016
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.020 0.500 2 2010 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2002 2006
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 0.667 3 2010 2014
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2013 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2003 2007
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.020 1.000 2 2000 2016
dbSNP: rs2274223
rs2274223
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.020 1.000 2 2011 2011
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2010 2014
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2007 2007
dbSNP: rs10783618
rs10783618
1 1.000 0.160 12 53971491 intron variant T/C snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs10818488
rs10818488
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2007 2007
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2010 2010