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: rs10004195
rs10004195
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs10145099
rs10145099
1 1.000 0.120 14 80990350 intron variant C/T snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs10181656
rs10181656
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs10197319
rs10197319
1 1.000 0.120 2 203898321 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1024161
rs1024161
2 0.925 0.160 2 203857029 intergenic variant T/A;C snv 0.810 1.000 2 2011 2019
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 < 0.001 1 2005 2005
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2009 2009
dbSNP: rs1044043
rs1044043
1 1.000 0.120 6 32826204 3 prime UTR variant A/C snv 0.82 0.700 1.000 1 2011 2011
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1053005
rs1053005
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1057035
rs1057035
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1061501
rs1061501
4 0.851 0.200 11 614864 synonymous variant C/T snv 0.83 0.85 0.010 1.000 1 2019 2019
dbSNP: rs1061502
rs1061502
3 0.882 0.160 11 614318 missense variant T/C snv 0.25 0.33 0.010 1.000 1 2019 2019
dbSNP: rs10719
rs10719
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.020 1.000 2 2005 2018
dbSNP: rs10738760
rs10738760
7 0.807 0.320 9 2691186 regulatory region variant A/G snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs10760130
rs10760130
2 0.925 0.200 9 120939712 intergenic variant G/A snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs10818488
rs10818488
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.010 1.000 1 2016 2016
dbSNP: rs10908583
rs10908583
1 1.000 0.120 1 157671893 downstream gene variant C/T snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs111033243
rs111033243
5 0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs111033304
rs111033304
1 1.000 0.120 7 107683334 missense variant A/C;G snv 1.0E-03 0.010 1.000 1 2010 2010
dbSNP: rs11166985
rs11166985
1 1.000 0.120 8 140634077 intron variant A/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs11171806
rs11171806
7 0.807 0.360 12 56339747 synonymous variant G/A snv 4.9E-02 4.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs1131445
rs1131445
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.020 1.000 2 2008 2014