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: rs6056923
rs6056923
1 1.000 0.160 20 9840271 intron variant T/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs11981433
rs11981433
4 0.882 0.240 7 95425028 intron variant T/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs3824662
rs3824662
11 0.752 0.320 10 8062245 intron variant C/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs8091180
rs8091180
3 1.000 0.160 18 79404243 intron variant G/A snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs117026326
rs117026326
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs4984
rs4984
3 0.925 0.160 2 70673271 synonymous variant G/A snv 0.12 0.15 0.010 1.000 1 2015 2015
dbSNP: rs7692514
rs7692514
2 0.925 0.160 4 65276878 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs329498
rs329498
3 0.882 0.200 2 64100410 synonymous variant G/A;C;T snv 8.0E-06; 0.34 0.010 1.000 1 2016 2016
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs2246614
rs2246614
3 0.882 0.160 11 619789 missense variant T/G snv 0.63 0.59 0.010 1.000 1 2011 2011
dbSNP: rs1364989
rs1364989
2 0.925 0.160 4 54145602 intron variant T/C snv 0.73 0.700 1.000 1 2014 2014
dbSNP: rs2397084
rs2397084
14 0.716 0.480 6 52237046 missense variant T/C snv 6.7E-02 6.1E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs352139
rs352139
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2010 2010
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2010 2017
dbSNP: rs8193037
rs8193037
12 0.752 0.320 6 52186311 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 < 0.001 1 2016 2016
dbSNP: rs8012283
rs8012283
NIN
2 0.925 0.160 14 50767442 intron variant A/G snv 0.23 0.700 1.000 1 2014 2014
dbSNP: rs1456896
rs1456896
5 0.882 0.200 7 50264865 upstream gene variant C/T snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs11893826
rs11893826
2 0.925 0.160 2 40337507 intron variant G/A snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs434082
rs434082
3 0.925 0.160 2 40257934 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs2157257
rs2157257
1 1.000 0.160 22 36312293 intron variant A/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs6897932
rs6897932
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs2295415
rs2295415
3 0.882 0.160 10 35212510 3 prime UTR variant A/G snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2017 2017