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: rs3806308
rs3806308
5 0.827 0.120 1 19816373 intron variant C/T snv 0.36 0.800 1.000 4 2009 2016
dbSNP: rs3810936
rs3810936
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.040 1.000 4 2014 2018
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.730 1.000 4 2008 2016
dbSNP: rs7554511
rs7554511
3 0.925 0.040 1 200908434 intron variant C/A snv 0.22 0.800 1.000 4 2009 2017
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.040 0.750 4 2008 2015
dbSNP: rs7608910
rs7608910
6 0.827 0.120 2 60977721 intron variant A/G snv 0.37 0.800 1.000 4 2011 2017
dbSNP: rs7848647
rs7848647
13 0.732 0.320 9 114806766 upstream gene variant T/C snv 0.74 0.730 1.000 4 2014 2018
dbSNP: rs941823
rs941823
6 0.827 0.120 13 40439840 intron variant T/C snv 0.77 0.800 1.000 4 2011 2017
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2007 2017
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.030 1.000 3 2014 2018
dbSNP: rs10781499
rs10781499
3 0.925 0.040 9 136371953 synonymous variant G/A snv 0.41 0.38 0.800 1.000 3 2011 2017
dbSNP: rs10883365
rs10883365
3 0.882 0.080 10 99528007 non coding transcript exon variant G/A snv 0.52 0.030 1.000 3 2010 2014
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.820 1.000 3 2009 2020
dbSNP: rs11150589
rs11150589
2 1.000 0.040 16 30471173 upstream gene variant T/A;C;G snv 0.800 1.000 3 2012 2017
dbSNP: rs11168249
rs11168249
9 0.807 0.120 12 47814585 intron variant T/C snv 0.50 0.700 1.000 3 2015 2017
dbSNP: rs11676348
rs11676348
8 0.790 0.160 2 218145423 regulatory region variant C/G;T snv 0.810 1.000 3 2011 2016
dbSNP: rs12568930
rs12568930
4 1.000 0.040 1 22375738 intergenic variant T/C snv 0.21 0.800 1.000 3 2009 2017
dbSNP: rs12942547
rs12942547
7 0.807 0.200 17 42375526 intron variant A/G;T snv 0.700 1.000 3 2015 2017
dbSNP: rs16940202
rs16940202
2 1.000 0.040 16 85980635 intron variant T/C snv 0.15 0.800 1.000 3 2011 2017
dbSNP: rs17293632
rs17293632
12 0.763 0.240 15 67150258 intron variant C/T snv 0.17 0.700 1.000 3 2015 2017
dbSNP: rs17780256
rs17780256
6 0.827 0.120 17 72646784 3 prime UTR variant A/C snv 0.18 0.700 1.000 3 2015 2017
dbSNP: rs1799977
rs1799977
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.030 0.667 3 2004 2009
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.030 0.667 3 2010 2014
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.720 0.667 3 2010 2017
dbSNP: rs1893217
rs1893217
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.720 1.000 3 2014 2016