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: rs6610650
rs6610650
2 1.000 0.040 X 37777261 intron variant G/A snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs11122576
rs11122576
AGT
2 1.000 0.080 1 230710933 intron variant T/C snv 8.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs146956976
rs146956976
GSN
2 1.000 0.080 9 121302985 missense variant C/T snv 3.1E-04 4.0E-04 0.010 1.000 1 2002 2002
dbSNP: rs1926723
rs1926723
AGT
2 1.000 0.080 1 230704350 intron variant T/A;C;G snv 1.2E-05; 0.11; 2.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs3729548
rs3729548
2 1.000 0.080 1 42934681 intron variant C/T snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs3923647
rs3923647
3 0.925 0.080 4 38797918 missense variant T/A;C;G snv 2.7E-02; 4.0E-06; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs7704116
rs7704116
2 1.000 0.080 5 134216763 intron variant C/T snv 9.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs869025495
rs869025495
6 0.851 0.080 1 179564715 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs9974610
rs9974610
3 1.000 0.080 21 31646056 intergenic variant A/G snv 0.13 0.010 1.000 1 2008 2008
dbSNP: rs1106766
rs1106766
7 0.882 0.120 12 57415673 intron variant C/T snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11089788
rs11089788
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs1888747
rs1888747
2 1.000 0.120 9 83540636 upstream gene variant C/G snv 0.78 0.010 1.000 1 2016 2016
dbSNP: rs2248098
rs2248098
VDR
4 0.925 0.120 12 47859573 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2607420
rs2607420
3 0.925 0.120 19 40738982 intron variant G/A snv 0.76 0.010 1.000 1 2014 2014
dbSNP: rs2856717
rs2856717
2 1.000 0.120 6 32702531 downstream gene variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs3115573
rs3115573
2 1.000 0.120 6 32251066 upstream gene variant A/G snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs37369
rs37369
9 0.807 0.120 5 35037010 missense variant C/T snv 0.21 0.25 0.010 1.000 1 2017 2017
dbSNP: rs4309
rs4309
ACE
3 0.925 0.120 17 63482562 synonymous variant C/T snv 0.46 0.36 0.010 1.000 1 2010 2010
dbSNP: rs758564400
rs758564400
REN
5 0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs9357155
rs9357155
2 1.000 0.120 6 32842071 non coding transcript exon variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs2276415
rs2276415
6 0.882 0.160 11 77590296 missense variant G/A snv 0.14 0.13 0.020 1.000 2 2016 2019
dbSNP: rs1337503417
rs1337503417
12 0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs136161
rs136161
3 0.925 0.160 22 36261386 intron variant G/C snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs2228226
rs2228226
6 0.851 0.160 12 57472038 missense variant G/C snv 0.60 0.68 0.010 1.000 1 2010 2010
dbSNP: rs2281999
rs2281999
3 0.925 0.160 9 35381507 intron variant C/T snv 0.35 0.38 0.010 1.000 1 2008 2008