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: rs7528684
rs7528684
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.050 1.000 5 2006 2016
dbSNP: rs874040
rs874040
4 0.925 0.160 4 26106575 downstream gene variant G/C snv 0.29 0.820 1.000 5 2010 2016
dbSNP: rs10484565
rs10484565
2 0.925 0.200 6 32827255 3 prime UTR variant G/A snv 6.1E-02 0.800 1.000 4 2007 2016
dbSNP: rs10488631
rs10488631
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.820 1.000 4 2010 2016
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.040 1.000 4 2005 2018
dbSNP: rs13330176
rs13330176
1 1.000 0.120 16 85985481 upstream gene variant T/A snv 0.24 0.800 1.000 4 2012 2019
dbSNP: rs1571878
rs1571878
1 1.000 0.120 6 167127354 intron variant C/T snv 0.61 0.800 1.000 4 2012 2019
dbSNP: rs1678542
rs1678542
9 0.790 0.320 12 57574932 intron variant C/G snv 0.42 0.820 1.000 4 2008 2014
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.040 0.750 4 2006 2013
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.730 0.750 4 2012 2017
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.040 0.750 4 2005 2013
dbSNP: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.710 1.000 4 2005 2011
dbSNP: rs2395173
rs2395173
3 0.882 0.240 6 32437082 upstream gene variant A/G snv 0.62 0.700 1.000 4 2007 2011
dbSNP: rs2516049
rs2516049
12 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 0.700 1.000 4 2007 2011
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 0.500 4 2012 2018
dbSNP: rs2561477
rs2561477
1 1.000 0.120 5 103273223 intron variant G/A snv 0.24 0.800 1.000 4 2012 2019
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.830 1.000 4 2009 2017
dbSNP: rs3027898
rs3027898
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.040 0.500 4 2010 2018
dbSNP: rs3102735
rs3102735
12 0.752 0.400 8 118952831 upstream gene variant T/C snv 0.17 0.040 0.250 4 2014 2019
dbSNP: rs33996649
rs33996649
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.040 1.000 4 2011 2019
dbSNP: rs34695944
rs34695944
REL
1 1.000 0.120 2 60897715 intron variant T/C snv 0.26 0.800 1.000 4 2012 2019
dbSNP: rs35829419
rs35829419
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.040 0.500 4 2010 2017
dbSNP: rs3738919
rs3738919
1 1.000 0.120 2 186656533 intron variant C/A;G snv 0.28 0.040 0.750 4 2007 2014
dbSNP: rs3792876
rs3792876
7 0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02 0.040 0.500 4 2005 2015
dbSNP: rs3890745
rs3890745
4 0.925 0.200 1 2622185 intron variant T/C snv 0.40 0.810 0.750 4 2008 2019