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: 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: rs16947078
rs16947078
2 0.925 0.080 17 47748134 downstream gene variant A/G;T snv 0.020 1.000 2 2008 2014
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: rs324015
rs324015
5 0.827 0.120 12 57096317 3 prime UTR variant T/C snv 0.76 0.020 1.000 2 2014 2014
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: rs10494132
rs10494132
4 0.851 0.080 1 111289601 upstream gene variant T/C snv 0.26 0.010 1.000 1 2008 2008
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: rs11650354
rs11650354
1 1.000 0.080 17 47744726 intron variant C/A;T snv 0.16 0.15 0.010 1.000 1 2008 2008
dbSNP: rs1207011218
rs1207011218
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs12603332
rs12603332
7 0.807 0.200 17 39926554 5 prime UTR variant T/C snv 0.49 0.010 < 0.001 1 2018 2018
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: rs1425851607
rs1425851607
2 0.925 0.080 9 21440691 frameshift variant C/- delins 4.2E-06 0.010 1.000 1 2001 2001
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: rs1558641
rs1558641
3 0.925 0.080 2 102149405 intron variant G/A snv 0.13 0.010 1.000 1 2015 2015
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: rs1861494
rs1861494
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2008 2008
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: 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: rs2233407
rs2233407
3 0.882 0.080 14 35405317 upstream gene variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs2236648
rs2236648
2 0.925 0.080 11 64197185 intron variant C/T snv 0.39 0.010 1.000 1 2019 2019
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: 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