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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2005 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2015
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2017 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 0.667 3 2015 2015
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 1.000 3 2009 2010
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 1.000 3 2010 2011
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 0.500 2 2005 2010
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 0.500 2 2005 2010
dbSNP: rs3802842
rs3802842
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.020 1.000 2 2010 2010
dbSNP: rs4939827
rs4939827
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.020 1.000 2 2012 2016
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2002 2015
dbSNP: rs10484879
rs10484879
5 0.827 0.160 6 52187159 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2004 2004
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2017 2017
dbSNP: rs1061624
rs1061624
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs10795668
rs10795668
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs10857561
rs10857561
1 1.000 0.080 10 48400595 intron variant G/A snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs10889675
rs10889675
2 1.000 0.080 1 67256533 intron variant C/A snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs11247735
rs11247735
1 1.000 0.080 1 25804968 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1126667
rs1126667
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2013 2013
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 < 0.001 1 2009 2009
dbSNP: rs1143623
rs1143623
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs11536898
rs11536898
3 0.882 0.080 9 117717932 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2007 2007
dbSNP: rs11718498
rs11718498
1 1.000 0.080 3 126654076 intron variant G/A snv 0.36 0.010 1.000 1 2012 2012