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: rs769397961
rs769397961
ACE
4 0.882 0.120 17 63488758 missense variant G/A snv 1.2E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs1863918
rs1863918
4 0.882 0.160 5 179112381 3 prime UTR variant G/T snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2014 2014
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2228079
rs2228079
4 0.882 0.160 1 203129147 synonymous variant T/G snv 0.31 0.26 0.010 1.000 1 2015 2015
dbSNP: rs2298383
rs2298383
11 0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1800035
rs1800035
4 0.925 0.080 10 111078794 missense variant C/G;T snv 1.9E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs636832
rs636832
8 0.790 0.400 1 35897874 intron variant G/A snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2017 2017
dbSNP: rs2514259
rs2514259
AIP
8 0.807 0.280 11 67479201 upstream gene variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1937863
rs1937863
3 0.925 0.080 10 5009340 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2013 2013
dbSNP: rs900418273
rs900418273
8 0.807 0.120 11 113393764 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs10766075
rs10766075
6 0.925 0.080 11 13297040 intron variant C/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs11022778
rs11022778
6 0.925 0.080 11 13369313 intron variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11824092
rs11824092
7 0.925 0.080 11 13324747 intron variant T/C snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs3789327
rs3789327
6 0.925 0.080 11 13363769 intron variant A/G snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs174697
rs174697
5 0.851 0.080 22 19966309 intron variant A/G snv 0.88 0.010 1.000 1 2012 2012
dbSNP: rs749437638
rs749437638
14 0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1106634
rs1106634
5 0.851 0.080 8 20208538 intron variant G/A;C;T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs33990840
rs33990840
3 0.925 0.080 1 206116320 missense variant C/G;T snv 5.0E-02; 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs56164415
rs56164415
6 0.851 0.120 11 27700188 5 prime UTR variant G/A snv 5.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs61888800
rs61888800
5 0.851 0.080 11 27700731 5 prime UTR variant G/T snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.917 84 2003 2020