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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.040 1.000 4 2009 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2005 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2013 2014
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 2000 2006
dbSNP: rs1394125
rs1394125
7 0.882 0.200 15 75866642 intron variant G/A;T snv 0.700 1.000 2 2010 2012
dbSNP: rs142480126
rs142480126
1 19 44907825 missense variant G/A snv 8.0E-06 0.020 1.000 2 2009 2009
dbSNP: rs2279463
rs2279463
4 1.000 0.080 6 160247357 intron variant A/G;T snv 0.700 1.000 2 2010 2012
dbSNP: rs4744712
rs4744712
4 1.000 0.080 9 68819791 intron variant A/C;T snv 0.700 1.000 2 2010 2012
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 0.500 2 2008 2014
dbSNP: rs881858
rs881858
7 0.882 0.200 6 43838872 intron variant G/A;C snv 0.700 1.000 2 2010 2012
dbSNP: rs10068737
rs10068737
1 5 118700852 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs1059703
rs1059703
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11011653
rs11011653
2 1.000 0.080 10 19875064 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11078903
rs11078903
2 17 39475671 intron variant G/A;C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs112201728
rs112201728
2 1.000 0.080 6 160130454 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1156619081
rs1156619081
1 11 74005787 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs117935223
rs117935223
2 1.000 0.080 22 18923820 non coding transcript exon variant C/A snv 0.700 1.000 1 2018 2018
dbSNP: rs12107
rs12107
3 1.000 0.040 22 36281936 3 prime UTR variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121917832
rs121917832
3 0.925 0.200 12 12718066 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs12194000
rs12194000
2 1.000 0.080 6 110454809 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1232013698
rs1232013698
TNF
1 6 31577208 missense variant G/T snv 4.1E-06 0.010 1.000 1 2009 2009
dbSNP: rs1290773788
rs1290773788
1 5 58989799 missense variant C/T snv 0.010 1.000 1 2009 2009