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: rs10020432
rs10020432
AFP
2 0.925 0.080 4 73455883 3 prime UTR variant A/G snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs10053538
rs10053538
7 0.807 0.160 5 157110499 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1041740
rs1041740
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 < 0.001 1 2017 2017
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: rs10945859
rs10945859
3 0.882 0.120 6 162721570 intron variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs11003123
rs11003123
6 0.827 0.200 10 52771774 upstream gene variant G/A snv 0.30 0.010 1.000 1 2016 2016
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: rs1140409
rs1140409
2 0.925 0.080 17 64500552 missense variant A/C snv 5.4E-02 5.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs11554495
rs11554495
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.010 1.000 1 2003 2003
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: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2017 2017
dbSNP: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2019 2019
dbSNP: rs1208663703
rs1208663703
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12104272
rs12104272
2 0.925 0.080 19 49644795 intron variant G/A snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs121918664
rs121918664
4 0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05 0.010 1.000 1 2017 2017
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: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
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: rs143175221
rs143175221
5 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 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