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: rs10170218
rs10170218
1 1.000 0.040 2 187949717 intron variant A/C snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs2794520
rs2794520
9 0.807 0.240 1 159709026 upstream gene variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3100127
rs3100127
1 1.000 0.040 1 202191842 upstream gene variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs406001
rs406001
1 1.000 0.040 7 51938719 intergenic variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs682457
rs682457
1 1.000 0.040 11 88216364 intergenic variant T/C snv 0.14 0.800 1.000 1 2014 2014
dbSNP: rs717947
rs717947
1 1.000 0.040 4 33652135 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs9315202
rs9315202
4 0.925 0.080 13 33067879 downstream gene variant C/T snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs4311
rs4311
ACE
3 0.882 0.200 17 63483402 intron variant T/C snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs263232
rs263232
1 1.000 0.040 8 130795923 intron variant C/A snv 6.7E-02 0.800 1.000 1 2014 2014
dbSNP: rs2267735
rs2267735
2 0.925 0.120 7 31095890 intron variant C/G snv 0.47 0.050 0.800 5 2013 2017
dbSNP: rs2400707
rs2400707
3 1.000 0.040 5 148825489 5 prime UTR variant A/G;T snv 0.020 1.000 2 2014 2017
dbSNP: rs1042357
rs1042357
2 0.925 0.040 17 7001742 synonymous variant T/C;G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs10852889
rs10852889
1 1.000 0.040 17 6997526 intron variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11599164
rs11599164
1 1.000 0.040 10 60072226 missense variant G/T snv 7.2E-02 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs17208576
rs17208576
1 1.000 0.040 10 60074815 synonymous variant G/A snv 7.2E-02 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs28932171
rs28932171
1 1.000 0.040 10 60071532 missense variant T/C snv 7.2E-02 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs9804190
rs9804190
5 0.882 0.040 10 60080073 intron variant C/T snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.030 1.000 3 2016 2019
dbSNP: rs159572
rs159572
1 1.000 0.040 5 56211219 intron variant A/C snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.850 20 2006 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.824 17 2006 2019
dbSNP: rs7103411
rs7103411
15 0.752 0.160 11 27678578 intron variant C/T snv 0.82 0.010 1.000 1 2018 2018
dbSNP: rs3852144
rs3852144
1 1.000 0.040 5 56566769 intron variant A/G snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs1990322
rs1990322
1 1.000 0.040 12 2651804 intron variant G/A snv 0.69 0.57 0.010 1.000 1 2018 2018
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2017 2020