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: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.100 0.955 22 2001 2014
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.080 0.875 8 2002 2015
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.080 0.875 8 2008 2018
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.080 0.875 8 2011 2019
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.870 0.875 8 2008 2018
dbSNP: rs3135506
rs3135506
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.070 1.000 7 2007 2016
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.060 1.000 6 2010 2017
dbSNP: rs1414334
rs1414334
5 0.851 0.160 X 114903581 intron variant C/G snv 0.050 0.800 5 2007 2018
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.050 1.000 5 2005 2016
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.040 1.000 4 2001 2012
dbSNP: rs1337503417
rs1337503417
12 0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06 0.040 1.000 4 2000 2011
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.040 1.000 4 2011 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 2008 2016
dbSNP: rs12255372
rs12255372
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.030 0.667 3 2009 2018
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.030 0.333 3 2001 2011
dbSNP: rs1801278
rs1801278
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.030 1.000 3 2009 2011
dbSNP: rs2075291
rs2075291
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.720 1.000 3 2008 2019
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.030 1.000 3 2013 2019
dbSNP: rs518147
rs518147
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.030 1.000 3 2007 2018
dbSNP: rs6921438
rs6921438
10 0.776 0.360 6 43957870 intergenic variant G/A;C snv 0.030 1.000 3 2018 2018
dbSNP: rs11545881
rs11545881
2 0.925 0.080 18 12274105 missense variant G/A;C;T snv 1.2E-05; 0.37 0.020 1.000 2 2008 2011
dbSNP: rs12386756
rs12386756
1 1.000 0.040 7 88301614 intron variant G/A;C;T snv 0.020 1.000 2 2010 2015
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 0.500 2 2018 2019
dbSNP: rs1800775
rs1800775
18 0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06 0.020 1.000 2 2017 2019
dbSNP: rs1884613
rs1884613
7 0.807 0.200 20 44351775 intron variant C/A;G;T snv 0.020 1.000 2 2012 2018