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: rs324011
rs324011
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.020 1.000 2 2014 2018
dbSNP: rs1558641
rs1558641
3 0.925 0.080 2 102149405 intron variant G/A snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs1861494
rs1861494
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs2282290
rs2282290
2 0.925 0.080 1 111320829 intron variant A/G snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs3217304
rs3217304
2 0.925 0.080 2 98544046 intron variant ACACAC/-;AC;ACAC;ACACACAC;ACACACACAC;ACACACACACAC delins 0.25 0.010 1.000 1 2008 2008
dbSNP: rs4065275
rs4065275
6 0.807 0.160 17 39924612 intron variant A/G;T snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs4794820
rs4794820
9 0.790 0.160 17 39933091 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs6871536
rs6871536
5 0.827 0.160 5 132634182 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs2872507
rs2872507
12 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1999071
rs1999071
4 0.851 0.080 14 22659998 regulatory region variant T/C snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs555743307
rs555743307
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.040 0.750 4 1999 2013
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2004 2020
dbSNP: rs11575936
rs11575936
4 0.851 0.200 6 137219288 missense variant C/T snv 1.3E-03 4.1E-04 0.010 1.000 1 2001 2001
dbSNP: rs1362834154
rs1362834154
2 0.925 0.080 16 27363681 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1538660
rs1538660
3 0.882 0.080 9 108879545 missense variant G/A snv 0.19 0.22 0.010 1.000 1 2003 2003
dbSNP: rs17577
rs17577
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 1.000 1 2006 2006
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2002 2002
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2007 2007
dbSNP: rs1805014
rs1805014
4 0.851 0.080 16 27363708 missense variant T/C snv 7.4E-03 1.4E-02 0.010 1.000 1 2002 2002
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs2305480
rs2305480
10 0.763 0.280 17 39905943 missense variant G/A snv 0.40 0.35 0.010 1.000 1 2015 2015
dbSNP: rs2664538
rs2664538
6 0.827 0.200 20 46011586 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs3135932
rs3135932
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2010 2010