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: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2007 2015
dbSNP: rs2056626
rs2056626
5 0.882 0.080 1 167451188 intron variant T/G snv 0.30 0.710 1.000 2 2011 2013
dbSNP: rs2104286
rs2104286
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.020 1.000 2 2009 2015
dbSNP: rs2281808
rs2281808
4 0.925 0.160 20 1629905 intron variant T/A;C snv 0.020 1.000 2 2018 2019
dbSNP: rs237025
rs237025
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.020 1.000 2 2006 2006
dbSNP: rs2488457
rs2488457
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.020 0.500 2 2012 2013
dbSNP: rs2816316
rs2816316
5 0.882 0.200 1 192567683 intron variant C/A snv 0.79 0.710 1.000 2 2011 2017
dbSNP: rs3027898
rs3027898
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.020 1.000 2 2015 2019
dbSNP: rs34557412
rs34557412
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.020 1.000 2 2012 2015
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.020 1.000 2 2014 2014
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2013
dbSNP: rs4810485
rs4810485
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.710 1.000 2 2011 2016
dbSNP: rs6679677
rs6679677
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.710 1.000 2 2012 2015
dbSNP: rs6840978
rs6840978
10 0.776 0.160 4 122633552 intron variant C/T snv 0.16 0.800 1.000 2 2011 2019
dbSNP: rs7528684
rs7528684
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.020 1.000 2 2013 2014
dbSNP: rs755622
rs755622
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.020 1.000 2 2017 2019
dbSNP: rs864537
rs864537
4 0.925 0.200 1 167442147 intron variant A/G snv 0.29 0.810 1.000 2 2011 2013
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.710 1.000 2 2011 2013
dbSNP: rs10202630
rs10202630
4 0.882 2 190398199 intergenic variant T/C snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs1020388
rs1020388
2 5 56264200 upstream gene variant T/G snv 0.34 0.800 1.000 1 2011 2011
dbSNP: rs10272724
rs10272724
4 0.882 0.200 7 50409515 downstream gene variant T/C snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs1032129
rs1032129
5 0.851 0.040 8 118939661 intron variant A/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs1036199
rs1036199
3 0.925 0.160 5 157104725 missense variant C/A snv 0.87 0.83 0.010 1.000 1 2018 2018
dbSNP: rs10425559
rs10425559
7 0.807 0.040 19 4837475 upstream gene variant A/G snv 0.66 0.700 1.000 1 2019 2019
dbSNP: rs10444776
rs10444776
4 0.882 14 105647030 upstream gene variant G/A;T snv 0.700 1.000 1 2019 2019