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: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.030 0.667 3 2017 2019
dbSNP: rs3834129
rs3834129
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.020 1.000 2 2009 2019
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.020 0.500 2 2013 2017
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs125701
rs125701
7 0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13 0.010 1.000 1 2007 2007
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs2295080
rs2295080
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2498801
rs2498801
7 0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs2664139
rs2664139
3 0.882 0.120 15 39580382 upstream gene variant T/C snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs3218373
rs3218373
5 0.827 0.120 7 152677078 upstream gene variant C/A snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs61330082
rs61330082
13 0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs7257330
rs7257330
3 0.882 0.120 19 29810916 upstream gene variant G/A snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs8179090
rs8179090
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs874945
rs874945
14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs921142
rs921142
3 0.882 0.120 8 41311757 upstream gene variant T/C snv 0.31 0.010 < 0.001 1 2013 2013
dbSNP: rs11466445
rs11466445
5 0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins 0.010 < 0.001 1 2009 2009
dbSNP: rs140241283
rs140241283
3 0.882 0.120 1 11796249 start lost A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs11685387
rs11685387
9 0.776 0.240 2 216109091 splice region variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs1799794
rs1799794
12 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs41277434
rs41277434
6 0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs603965
rs603965
14 0.732 0.440 11 69648142 splice region variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1805377
rs1805377
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.020 1.000 2 2007 2013
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2010 2015
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 1.000 5 2012 2018