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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 23 2005 2019
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.090 1.000 9 2010 2019
dbSNP: rs2522833
rs2522833
7 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 0.780 1.000 9 2009 2017
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.060 1.000 6 2010 2019
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.060 1.000 6 2009 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2012 2017
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.040 1.000 4 2008 2013
dbSNP: rs11030101
rs11030101
10 0.763 0.160 11 27659197 5 prime UTR variant A/T snv 0.36 0.040 1.000 4 2009 2018
dbSNP: rs12552
rs12552
3 1.000 0.040 13 53051646 3 prime UTR variant A/G snv 0.58 0.700 1.000 4 2016 2019
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.040 1.000 4 2011 2019
dbSNP: rs2535629
rs2535629
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.820 1.000 4 2013 2019
dbSNP: rs10149470
rs10149470
3 1.000 0.040 14 103551616 upstream gene variant A/G snv 0.54 0.700 1.000 3 2018 2019
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.030 1.000 3 2012 2016
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.030 1.000 3 2009 2016
dbSNP: rs120074175
rs120074175
7 0.827 0.080 12 72031544 missense variant G/A snv 1.2E-05 7.0E-06 0.030 1.000 3 2006 2015
dbSNP: rs12415800
rs12415800
1 1.000 0.040 10 67864422 intergenic variant G/A;C snv 0.720 1.000 3 2018 2019
dbSNP: rs1545843
rs1545843
6 0.827 0.120 12 84170289 intron variant G/A snv 0.52 0.720 1.000 3 2011 2017
dbSNP: rs242939
rs242939
3 0.882 0.120 17 45818213 intron variant C/T snv 0.86 0.030 1.000 3 2007 2013
dbSNP: rs242941
rs242941
9 0.790 0.200 17 45815154 intron variant A/C snv 0.62 0.030 1.000 3 2007 2013
dbSNP: rs3800373
rs3800373
22 0.752 0.200 6 35574699 3 prime UTR variant C/A snv 0.68 0.030 1.000 3 2009 2016
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.030 1.000 3 2012 2017
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.030 1.000 3 2011 2019
dbSNP: rs1021363
rs1021363
1 1.000 0.040 10 104851081 intron variant A/G snv 0.74 0.700 1.000 2 2018 2019
dbSNP: rs10514299
rs10514299
6 0.827 0.120 5 88367793 intron variant C/T snv 0.21 0.710 1.000 2 2016 2018
dbSNP: rs10774037
rs10774037
3 0.882 0.040 12 2311360 intron variant G/A snv 0.77 0.800 1.000 2 2013 2019