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: rs10865035
rs10865035
2 1.000 0.080 2 100219272 intron variant A/G snv 0.42 0.010 1.000 1 2012 2012
dbSNP: rs10892301
rs10892301
1 1.000 0.080 11 118864767 intergenic variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10893872
rs10893872
4 0.882 0.120 11 128455658 downstream gene variant T/C snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs10947345
rs10947345
1 1.000 0.080 6 32782018 intergenic variant T/A snv 0.010 1.000 1 2009 2009
dbSNP: rs10971259
rs10971259
1 1.000 0.080 9 32978808 intron variant C/T snv 0.17 0.010 1.000 1 2011 2011
dbSNP: rs11168268
rs11168268
VDR
2 0.925 0.120 12 47858029 intron variant G/A snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs11203203
rs11203203
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.010 < 0.001 1 2015 2015
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs1131012
rs1131012
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs1135840
rs1135840
8 0.807 0.200 22 42126611 missense variant C/G snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1148247
rs1148247
3 0.882 0.160 10 35208018 intron variant G/A snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs1152888
rs1152888
1 1.000 0.080 12 66211448 missense variant A/C;G snv 4.0E-06; 0.87 0.010 < 0.001 1 2012 2012
dbSNP: rs11540761
rs11540761
1 1.000 0.080 19 54663551 missense variant G/T snv 0.20 0.19 0.010 1.000 1 2013 2013
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs11556218
rs11556218
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2009 2009
dbSNP: rs11592925
rs11592925
1 1.000 0.080 10 35136622 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs11594656
rs11594656
9 0.776 0.240 10 6080046 intergenic variant T/A snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs11603023
rs11603023
3 0.925 0.120 11 118615352 intron variant T/C snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs11631591
rs11631591
1 1.000 0.080 15 38558061 intron variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs116727542
rs116727542
1 1.000 0.080 6 32453450 intergenic variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1169089134
rs1169089134
9 0.790 0.320 11 49206785 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11725913
rs11725913
1 1.000 0.080 4 121656537 TF binding site variant G/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1172908852
rs1172908852
NPL
1 1.000 0.080 1 182822176 missense variant T/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1188348
rs1188348
1 1.000 0.080 1 30751153 intron variant T/C snv 0.34 0.010 1.000 1 2015 2015