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: rs112538845
rs112538845
3 0.925 0.040 4 184084475 downstream gene variant C/T snv 1.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs201921722
rs201921722
3 0.925 0.040 11 123679999 downstream gene variant -/A delins 9.2E-06 0.700 1.000 1 2016 2016
dbSNP: rs2137947
rs2137947
3 0.882 0.040 3 4989276 downstream gene variant C/T snv 0.64 0.010 1.000 1 2019 2019
dbSNP: rs34102224
rs34102224
3 0.925 0.040 8 5364506 downstream gene variant G/C snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.050 1.000 5 2010 2019
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.020 1.000 2 2012 2019
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.020 1.000 2 2017 2019
dbSNP: rs10447760
rs10447760
4 0.851 0.040 7 114083210 upstream gene variant C/T snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs111365677
rs111365677
3 0.925 0.040 1 99463578 upstream gene variant T/C snv 2.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs11178997
rs11178997
5 0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs182377406
rs182377406
3 0.925 0.040 11 67449378 upstream gene variant A/G snv 4.5E-04 0.700 1.000 1 2016 2016
dbSNP: rs2551941
rs2551941
2 0.925 0.040 2 207627419 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs4810896
rs4810896
2 0.925 0.040 20 48918761 upstream gene variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs55679149
rs55679149
3 0.925 0.040 1 89068655 upstream gene variant C/T snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs945032
rs945032
5 0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2302045
rs2302045
4 0.851 0.040 2 241081801 splice region variant G/A snv 7.6E-02 1.0E-01 0.700 1.000 1 2015 2015
dbSNP: rs11728985
rs11728985
3 0.925 0.040 4 129115280 3 prime UTR variant C/T snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs12720071
rs12720071
7 0.807 0.200 6 88141462 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2008 2008
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2011 2011
dbSNP: rs3746544
rs3746544
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2015 2015