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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.889 9 2002 2016
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 0.667 3 2009 2014
dbSNP: rs1915087
rs1915087
2 0.925 0.080 3 122119944 3 prime UTR variant T/C snv 0.020 1.000 2 2015 2018
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.020 1.000 2 2007 2012
dbSNP: rs2249825
rs2249825
23 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 0.020 1.000 2 2012 2019
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs4358188
rs4358188
BPI
7 0.827 0.160 20 38318446 missense variant G/A;C snv 0.46 0.020 1.000 2 2001 2014
dbSNP: rs5743551
rs5743551
12 0.742 0.240 4 38806033 intron variant T/A;C snv 0.020 1.000 2 2014 2016
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1153879
rs1153879
2 0.925 0.080 3 136392816 intron variant G/T snv 0.010 1.000 1 2014 2014
dbSNP: rs11568821
rs11568821
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1475145065
rs1475145065
3 0.882 0.080 14 24574706 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs17281995
rs17281995
11 0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs17602729
rs17602729
2 0.925 0.080 1 114693436 stop gained G/A;T snv 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1799768
rs1799768
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2015 2015
dbSNP: rs1800624
rs1800624
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2027432
rs2027432
3 0.882 0.160 1 247415139 upstream gene variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs212388
rs212388
8 0.827 0.240 6 159069404 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2332096
rs2332096
2 0.925 0.080 3 122102296 intron variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2715267
rs2715267
2 0.925 0.080 3 122052011 upstream gene variant G/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2839693
rs2839693
3 0.882 0.120 10 44379119 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2857656
rs2857656
5 0.851 0.120 17 34254988 upstream gene variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs3091244
rs3091244
CRP
17 0.724 0.280 1 159714875 upstream gene variant G/A;T snv 0.010 < 0.001 1 2018 2018