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: rs267734
rs267734
7 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs3759126
rs3759126
3 0.882 0.080 12 49950079 upstream gene variant A/G snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs3760106
rs3760106
3 0.925 0.080 16 23834475 upstream gene variant C/T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs3957357
rs3957357
7 0.807 0.280 6 52803889 upstream gene variant A/G snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs4553808
rs4553808
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs4805497
rs4805497
2 1.000 0.080 19 29914778 upstream gene variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs4897081
rs4897081
3 0.882 0.160 6 149115402 upstream gene variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs5742909
rs5742909
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs730947
rs730947
2 0.925 0.080 2 218838575 upstream gene variant A/C snv 1.0E-01 0.010 1.000 1 2010 2010
dbSNP: rs743811
rs743811
4 0.882 0.160 22 35396981 upstream gene variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs76064236
rs76064236
1 1.000 0.080 1 226335330 upstream gene variant T/G snv 2.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs142085340
rs142085340
3 1.000 0.080 19 38106538 splice region variant C/T snv 9.1E-05 3.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs3752462
rs3752462
7 0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53 0.010 1.000 1 2012 2012
dbSNP: rs4725366
rs4725366
2 1.000 0.080 7 150824966 splice region variant A/G snv 0.81 0.700 1.000 1 2018 2018
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2014 2014
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2014 2014
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.030 1.000 3 2009 2019
dbSNP: rs1049255
rs1049255
9 0.776 0.320 16 88643329 3 prime UTR variant C/T snv 0.49 0.48 0.010 1.000 1 2016 2016
dbSNP: rs16347
rs16347
2 0.925 0.080 2 112774138 3 prime UTR variant -/TGAA delins 0.70 0.010 1.000 1 2003 2003
dbSNP: rs174545
rs174545
5 1.000 0.080 11 61801834 3 prime UTR variant C/A;G snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs2490391
rs2490391
2 1.000 0.080 1 243306367 3 prime UTR variant A/C snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs3448
rs3448
8 0.776 0.240 3 49359318 3 prime UTR variant T/C snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs696
rs696
22 0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2016 2016