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: rs1398830127
rs1398830127
2 0.925 0.080 6 29610981 missense variant C/T snv 4.1E-06 0.070 0.714 7 2003 2011
dbSNP: rs1805057
rs1805057
2 0.925 0.080 6 29613344 missense variant C/T snv 1.1E-03 1.5E-03 0.070 0.714 7 2003 2011
dbSNP: rs16990018
rs16990018
5 0.882 0.120 20 4699732 missense variant A/G snv 3.8E-03 1.6E-02 0.010 1.000 1 2004 2004
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 0.750 4 2006 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.040 0.750 4 2006 2018
dbSNP: rs137852779
rs137852779
2 1.000 0.040 6 52438538 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1799990
rs1799990
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.020 0.500 2 2007 2008
dbSNP: rs104894718
rs104894718
8 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs944688
rs944688
1 1.000 0.040 9 98601678 intron variant C/T snv 0.35 0.010 1.000 1 2008 2008
dbSNP: rs118192250
rs118192250
5 0.851 0.120 8 132175457 missense variant C/A snv 0.010 1.000 1 2009 2009
dbSNP: rs11191692
rs11191692
1 1.000 0.040 10 103454008 3 prime UTR variant G/A snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs2986017
rs2986017
6 0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80 0.010 < 0.001 1 2011 2011
dbSNP: rs4906902
rs4906902
14 0.724 0.200 15 26774621 intron variant A/G snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs844347
rs844347
1 1.000 0.040 12 50067893 intron variant A/C snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs3812718
rs3812718
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs61738009
rs61738009
11 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.010 1.000 1 2012 2012
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2013 2013
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.010 1.000 1 2013 2013
dbSNP: rs17110747
rs17110747
4 0.882 0.120 12 72032174 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs1057517661
rs1057517661
2 0.925 0.040 11 68685628 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1801278
rs1801278
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.010 1.000 1 2015 2015