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: 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: rs121912863
rs121912863
2 1.000 2 227008112 missense variant G/A snv 1.6E-04 1.8E-04 0.010 1.000 1 2014 2014
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: 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: 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: rs2053044
rs2053044
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs267606743
rs267606743
5 1.000 0.160 13 110192222 missense variant C/T snv 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: rs3729548
rs3729548
2 1.000 0.080 1 42934681 intron variant C/T snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs426496
rs426496
3 1.000 0.040 12 49954295 synonymous variant T/C snv 0.77 0.71 0.010 1.000 1 2016 2016
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: 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: rs868580411
rs868580411
2 1.000 X 108602973 missense variant G/A;T snv 0.010 1.000 1 2019 2019
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: rs9974610
rs9974610
3 1.000 0.080 21 31646056 intergenic variant A/G snv 0.13 0.010 1.000 1 2008 2008
dbSNP: rs1191455921
rs1191455921
3 0.925 0.240 9 126693319 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121918673
rs121918673
3 0.925 0.200 17 37701122 missense variant G/C snv 1.9E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs12449782
rs12449782
3 0.925 0.200 17 63498888 intron variant G/A snv 0.41 0.010 1.000 1 2009 2009
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: rs1883414
rs1883414
3 0.925 0.200 6 33118671 non coding transcript exon variant G/A snv 0.28 0.800 1.000 1 2011 2011
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: 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
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: rs28362930
rs28362930
3 0.925 0.160 15 74408859 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019