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: rs10831234
rs10831234
1 1.000 11 94500021 downstream gene variant C/T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs11231017
rs11231017
5 0.925 11 62293877 downstream gene variant G/A snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs6996198
rs6996198
1 1.000 8 64550885 downstream gene variant C/T snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs10415893
rs10415893
1 1.000 19 17401603 upstream gene variant G/A snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs10892324
rs10892324
5 0.925 11 119032329 upstream gene variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs35228531
rs35228531
1 1.000 22 39087839 upstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs79709413
rs79709413
6 0.882 0.080 13 24740488 upstream gene variant G/T snv 4.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs139292
rs139292
1 1.000 22 39100318 inframe deletion CAA/- delins 0.010 1.000 1 2016 2016
dbSNP: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2015 2015
dbSNP: rs17151904
rs17151904
5 0.925 7 25568789 TF binding site variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs368234815
rs368234815
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.020 1.000 2 2015 2016
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.020 1.000 2 2010 2012
dbSNP: rs1063320
rs1063320
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs17878969
rs17878969
VDR
1 1.000 12 47842624 3 prime UTR variant TTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT delins 0.010 1.000 1 2008 2008
dbSNP: rs1801157
rs1801157
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2005 2005
dbSNP: rs4704846
rs4704846
2 1.000 5 157086333 3 prime UTR variant G/A snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs4835796
rs4835796
5 0.925 5 138446426 3 prime UTR variant T/G snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs8321
rs8321
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs9576
rs9576
1 1.000 19 17403172 3 prime UTR variant T/G snv 0.92 0.010 1.000 1 2016 2016
dbSNP: rs6850
rs6850
9 0.790 0.160 7 44796715 5 prime UTR variant A/G;T snv 0.26; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs11157436
rs11157436
7 0.851 0.040 14 22168978 synonymous variant C/T snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2012 2012
dbSNP: rs371074389
rs371074389
16 0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs7117111
rs7117111
1 1.000 11 108046360 synonymous variant A/G snv 0.68 0.59 0.010 1.000 1 2017 2017
dbSNP: rs766914563
rs766914563
16 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012