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: rs99780
rs99780
3 1.000 0.080 11 61829161 intron variant C/T snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs995922697
rs995922697
15 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs9895661
rs9895661
10 0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 0.700 1.000 2 2010 2019
dbSNP: rs9830664
rs9830664
LPP
1 1.000 0.080 3 188874357 missense variant G/A snv 2.1E-03 2.5E-03 0.700 1.000 1 2018 2018
dbSNP: rs9749262
rs9749262
2 1.000 0.080 19 8223873 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs97384
rs97384
5 1.000 0.080 11 61856709 non coding transcript exon variant T/C snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs968567
rs968567
7 0.851 0.240 11 61828092 intron variant C/T snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs963837
rs963837
8 0.925 0.120 11 30727543 intergenic variant T/C snv 0.35 0.700 1.000 2 2016 2019
dbSNP: rs9395890
rs9395890
2 0.925 0.080 6 53956196 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs9379832
rs9379832
3 1.000 0.080 6 26185972 downstream gene variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs9379084
rs9379084
6 0.882 0.160 6 7231610 missense variant G/A snv 0.11 8.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs9374
rs9374
2 0.925 0.080 7 6402740 3 prime UTR variant G/A snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs9369717
rs9369717
2 0.925 0.080 6 47586732 intron variant T/G snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs9349417
rs9349417
2 0.925 0.080 6 47612921 intron variant A/G snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs9298190
rs9298190
2 0.925 0.080 8 71932099 intron variant T/C snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs926632
rs926632
3 0.882 0.160 20 59309707 intron variant C/T snv 0.61 0.010 1.000 1 2019 2019
dbSNP: rs926392
rs926392
1 1.000 0.080 20 39061821 intergenic variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs911119
rs911119
9 0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs904520404
rs904520404
2 0.925 0.080 6 24302010 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs890336
rs890336
3 0.882 0.160 18 74520377 3 prime UTR variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs881858
rs881858
7 0.882 0.200 6 43838872 intron variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs868822
rs868822
2 1.000 0.080 7 156460245 intron variant T/A;G snv 0.59 0.700 1.000 1 2019 2019
dbSNP: rs867394500
rs867394500
ACE
4 0.851 0.080 17 63477301 missense variant G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs850799
rs850799
2 1.000 0.080 15 23679185 intergenic variant T/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs836488
rs836488
2 0.925 0.080 7 6380162 intron variant C/T snv 0.13 0.010 1.000 1 2016 2016