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: rs6897932
rs6897932
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.900 0.909 22 2007 2018
dbSNP: rs2104286
rs2104286
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.900 1.000 14 2007 2019
dbSNP: rs3135388
rs3135388
7 0.807 0.240 6 32445274 downstream gene variant A/G snv 0.90 0.890 1.000 12 2007 2018
dbSNP: rs1800693
rs1800693
9 0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38 0.880 1.000 12 2009 2019
dbSNP: rs12722489
rs12722489
3 0.882 0.160 10 6060049 intron variant C/T snv 0.11 0.850 1.000 7 2007 2018
dbSNP: rs17824933
rs17824933
CD6
1 1.000 0.080 11 60993140 intron variant C/A;G snv 0.850 1.000 7 2009 2016
dbSNP: rs703842
rs703842
4 0.851 0.240 12 57768956 missense variant A/G snv 0.38 0.33 0.840 0.800 5 2009 2019
dbSNP: rs10492972
rs10492972
1 1.000 0.080 1 10293054 intron variant T/C snv 0.32 0.830 1.000 4 2008 2011
dbSNP: rs9657904
rs9657904
3 0.925 0.160 3 105867870 intron variant T/A;C snv 0.830 0.750 4 2010 2017
dbSNP: rs2300747
rs2300747
3 0.882 0.200 1 116561593 intron variant A/G snv 0.19 0.820 1.000 6 2009 2018
dbSNP: rs12368653
rs12368653
1 1.000 0.080 12 57739473 intron variant G/A;T snv 0.820 1.000 4 2009 2018
dbSNP: rs2248359
rs2248359
8 0.790 0.400 20 54174979 upstream gene variant C/T snv 0.47 0.820 1.000 4 2011 2016
dbSNP: rs180515
rs180515
1 1.000 0.080 17 59946914 3 prime UTR variant A/G snv 0.33 0.820 1.000 3 2011 2017
dbSNP: rs9282641
rs9282641
1 1.000 0.080 3 122077921 splice region variant G/A snv 7.0E-02 0.820 1.000 3 2011 2018
dbSNP: rs9523762
rs9523762
2 0.925 0.120 13 92679633 intron variant G/A snv 0.39 0.820 1.000 3 2009 2013
dbSNP: rs744166
rs744166
22 0.689 0.560 17 42362183 intron variant A/G snv 0.48 0.820 1.000 2 2010 2012
dbSNP: rs1335532
rs1335532
1 1.000 0.080 1 116558335 intron variant A/G snv 0.28 0.810 1.000 5 2009 2018
dbSNP: rs3129934
rs3129934
2 0.925 0.160 6 32368410 intron variant T/C snv 0.83 0.810 1.000 4 2007 2018
dbSNP: rs1077667
rs1077667
2 0.925 0.120 19 6668961 intron variant C/G;T snv 0.810 1.000 3 2011 2013
dbSNP: rs11154801
rs11154801
3 0.882 0.160 6 135418217 intron variant C/A snv 0.28 0.810 1.000 3 2011 2018
dbSNP: rs17066096
rs17066096
2 1.000 0.080 6 137131771 intergenic variant A/G snv 0.20 0.810 1.000 3 2011 2019
dbSNP: rs1738074
rs1738074
9 0.790 0.320 6 159044945 5 prime UTR variant T/C snv 0.49 0.810 1.000 3 2011 2017
dbSNP: rs4810485
rs4810485
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.810 1.000 3 2011 2018
dbSNP: rs6062314
rs6062314
2 0.925 0.160 20 63778360 intron variant C/G;T snv 0.810 1.000 3 2011 2019
dbSNP: rs6859219
rs6859219
4 0.925 0.160 5 56142753 intron variant C/A snv 0.20 0.810 1.000 3 2011 2016