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: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.956 367 2003 2019
dbSNP: rs944289
rs944289
16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.100 0.833 12 2010 2019
dbSNP: rs965513
rs965513
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.100 0.917 12 2011 2017
dbSNP: rs1867277
rs1867277
10 0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 0.080 0.750 8 2011 2017
dbSNP: rs2439302
rs2439302
9 0.776 0.200 8 32574851 intron variant G/C snv 0.54 0.050 1.000 5 2013 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2009 2016
dbSNP: rs116909374
rs116909374
11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.030 1.000 3 2013 2019
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.030 1.000 3 2016 2019
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 1.000 3 2009 2016
dbSNP: rs966423
rs966423
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.030 0.667 3 2013 2019
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.020 1.000 2 2019 2019
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.020 1.000 2 2018 2019
dbSNP: rs121913233
rs121913233
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.020 1.000 2 2018 2019
dbSNP: rs121913240
rs121913240
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.020 1.000 2 2018 2019
dbSNP: rs1410727652
rs1410727652
2 1.000 0.080 6 160348669 missense variant C/T snv 7.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs153109
rs153109
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.020 1.000 2 2015 2017
dbSNP: rs3748093
rs3748093
4 0.925 0.120 7 140800651 intron variant T/A snv 1.5E-02 0.020 1.000 2 2013 2016
dbSNP: rs3787016
rs3787016
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.020 1.000 2 2018 2019
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.020 1.000 2 2008 2016
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2015 2018
dbSNP: rs6983267
rs6983267
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.020 < 0.001 2 2012 2015
dbSNP: rs10119760
rs10119760
1 1.000 0.080 9 97862320 intergenic variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10434
rs10434
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2019 2019
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2019 2019