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: rs28929474
rs28929474
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.050 1.000 5 2011 2019
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.040 1.000 4 2016 2019
dbSNP: rs236918
rs236918
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.030 1.000 3 2014 2017
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2008 2014
dbSNP: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2011 2012
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.020 1.000 2 2012 2013
dbSNP: rs376373278
rs376373278
MPO
3 0.882 0.120 17 58279015 missense variant G/A;C snv 4.2E-06 0.020 1.000 2 2011 2012
dbSNP: rs72613567
rs72613567
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 1.000 2 2019 2020
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2015 2015
dbSNP: rs972427414
rs972427414
MPO
3 0.882 0.120 17 58279379 missense variant A/G snv 0.020 1.000 2 2011 2012
dbSNP: rs10053538
rs10053538
7 0.807 0.160 5 157110499 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10433937
rs10433937
4 0.882 0.080 4 87308948 intron variant T/A;C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1054690270
rs1054690270
5 0.827 0.160 8 144505907 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs10932029
rs10932029
5 0.827 0.200 2 203937045 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1161457931
rs1161457931
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs1201810520
rs1201810520
2 0.925 0.160 2 88590497 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1227756
rs1227756
2 0.925 0.080 10 69828748 intron variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1275561861
rs1275561861
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs13347
rs13347
12 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1346044973
rs1346044973
4 0.851 0.160 5 1294158 missense variant G/A snv 1.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs137853590
rs137853590
3 0.882 0.160 16 30751140 stop gained C/T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1431315635
rs1431315635
3 0.882 0.120 6 26092928 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1485766
rs1485766
3 0.882 0.120 4 176689730 intron variant T/A;G snv 0.010 1.000 1 2014 2014