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: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 < 0.001 2 2017 2019
dbSNP: rs30461
rs30461
5 0.827 0.120 19 39298475 missense variant A/G snv 0.13 0.25 0.020 < 0.001 2 2012 2019
dbSNP: rs10180391
rs10180391
1 1.000 0.040 2 85699222 downstream gene variant C/T snv 0.31 0.010 < 0.001 1 2019 2019
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 < 0.001 1 2016 2016
dbSNP: rs11938228
rs11938228
4 0.882 0.120 4 153700794 intron variant C/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs146466242
rs146466242
4 0.851 0.120 1 152302822 stop gained T/A;C snv 1.4E-03; 8.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 < 0.001 1 2019 2019
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs237025
rs237025
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 < 0.001 1 2008 2008
dbSNP: rs3021097
rs3021097
10 0.752 0.440 1 206773289 5 prime UTR variant A/G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs512625
rs512625
2 0.925 0.120 20 3667731 upstream gene variant A/G;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs628977
rs628977
4 0.851 0.160 20 3669074 intron variant T/C snv 0.65 0.010 < 0.001 1 2008 2008
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 < 0.001 1 2019 2019
dbSNP: rs734232
rs734232
1 1.000 0.040 17 74769592 downstream gene variant G/A snv 0.34 0.010 < 0.001 1 2005 2005
dbSNP: rs7908
rs7908
1 1.000 0.040 2 85698633 missense variant C/A;G snv 0.42 0.010 < 0.001 1 2019 2019
dbSNP: rs9266150
rs9266150
3 0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs11805303
rs11805303
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.020 0.500 2 2011 2016
dbSNP: rs26653
rs26653
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.020 0.500 2 2013 2018
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.020 0.500 2 2008 2012
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 0.500 2 2014 2017
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 0.800 5 2008 2016
dbSNP: rs6887695
rs6887695
14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.100 0.818 11 2007 2018