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: rs2736098
rs2736098
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.040 1.000 4 2011 2018
dbSNP: rs710521
rs710521
4 0.851 0.200 3 189928144 intergenic variant T/C snv 0.24 0.040 1.000 4 2009 2018
dbSNP: rs833052
rs833052
5 0.827 0.160 6 43755598 intergenic variant A/C snv 0.88 0.040 1.000 4 2007 2019
dbSNP: rs9282861
rs9282861
31 0.658 0.440 16 28606193 missense variant C/T snv 0.040 1.000 4 2003 2017
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.030 0.667 3 2007 2013
dbSNP: rs11892031
rs11892031
5 0.882 0.120 2 233656637 intron variant A/C;T snv 0.030 0.667 3 2010 2015
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.030 1.000 3 2011 2017
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.030 1.000 3 2010 2012
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2011 2015
dbSNP: rs25648
rs25648
11 0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16 0.030 1.000 3 2010 2019
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.030 0.667 3 2017 2019
dbSNP: rs762551
rs762551
23 0.701 0.400 15 74749576 intron variant C/A snv 0.67 0.030 1.000 3 2015 2016
dbSNP: rs1014971
rs1014971
3 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 0.020 1.000 2 2010 2016
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.020 0.500 2 2004 2014
dbSNP: rs1046778
rs1046778
4 0.851 0.160 10 102901727 3 prime UTR variant T/C snv 0.30 0.020 1.000 2 2018 2018
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.020 1.000 2 2011 2013
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.020 0.500 2 2013 2014
dbSNP: rs10748835
rs10748835
5 0.827 0.160 10 102900499 non coding transcript exon variant G/A snv 0.41 0.020 1.000 2 2018 2018
dbSNP: rs10936599
rs10936599
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.020 1.000 2 2014 2019
dbSNP: rs121913483
rs121913483
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.020 1.000 2 2007 2019
dbSNP: rs1495741
rs1495741
9 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.020 1.000 2 2014 2016
dbSNP: rs153109
rs153109
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.020 1.000 2 2015 2015
dbSNP: rs17655
rs17655
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 0.500 2 2011 2014
dbSNP: rs17674580
rs17674580
3 0.882 0.120 18 45729946 5 prime UTR variant C/A;T snv 0.020 1.000 2 2014 2014
dbSNP: rs17855750
rs17855750
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.020 1.000 2 2015 2015