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: rs10488631
rs10488631
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.810 1.000 5 2010 2019
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.050 1.000 5 2002 2010
dbSNP: rs2056626
rs2056626
5 0.882 0.080 1 167451188 intron variant T/G snv 0.30 0.830 1.000 5 2010 2019
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.820 1.000 4 2010 2019
dbSNP: rs35677470
rs35677470
6 0.807 0.160 3 58197909 missense variant G/A;C snv 4.8E-02; 4.0E-06 0.710 1.000 4 2014 2019
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.040 1.000 4 2011 2017
dbSNP: rs1059702
rs1059702
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.030 1.000 3 2011 2017
dbSNP: rs3821236
rs3821236
3 0.882 0.160 2 191038032 intron variant G/A snv 0.25 0.800 1.000 3 2010 2019
dbSNP: rs10174238
rs10174238
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 2 2018 2019
dbSNP: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.020 1.000 2 2009 2010
dbSNP: rs11893432
rs11893432
5 0.827 0.120 2 191057148 intron variant C/G snv 0.21 0.700 1.000 2 2014 2018
dbSNP: rs12039904
rs12039904
1 1.000 0.040 1 173243134 intergenic variant C/T snv 0.19 0.020 1.000 2 2011 2012
dbSNP: rs1234314
rs1234314
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.020 1.000 2 2010 2011
dbSNP: rs13239597
rs13239597
3 0.882 0.080 7 129055929 non coding transcript exon variant C/A snv 9.0E-02 0.810 1.000 2 2013 2020
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.020 1.000 2 2010 2011
dbSNP: rs1857066
rs1857066
1 1.000 0.040 1 173363490 non coding transcript exon variant A/C snv 0.79 0.800 1.000 2 2013 2019
dbSNP: rs2205960
rs2205960
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.020 1.000 2 2010 2012
dbSNP: rs3733197
rs3733197
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.020 1.000 2 2009 2010
dbSNP: rs3790566
rs3790566
1 1.000 0.040 1 67348757 intron variant T/C snv 0.61 0.800 1.000 2 2013 2019
dbSNP: rs3894194
rs3894194
3 0.882 0.120 17 39965740 missense variant G/A snv 0.46 0.41 0.710 1.000 2 2017 2018
dbSNP: rs443198
rs443198
4 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.800 1.000 2 2010 2011
dbSNP: rs4728142
rs4728142
18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.020 1.000 2 2012 2013
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.020 1.000 2 2010 2017
dbSNP: rs6457617
rs6457617
11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.800 1.000 2 2010 2011
dbSNP: rs844648
rs844648
6 0.807 0.280 1 173254724 regulatory region variant G/A snv 0.46 0.020 1.000 2 2010 2012