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: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs12564445
rs12564445
5 0.851 0.040 1 201376359 intron variant G/A snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs150821281
rs150821281
7 0.827 0.080 12 32878461 missense variant G/A snv 2.3E-03 2.5E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs198358
rs198358
4 0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32 0.010 < 0.001 1 2013 2013
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs4898
rs4898
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 < 0.001 1 2018 2018
dbSNP: rs5068
rs5068
13 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 0.500 2 2010 2018
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.060 0.833 6 2012 2019
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.100 0.917 12 2003 2019
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.060 1.000 6 2010 2018
dbSNP: rs1801252
rs1801252
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.060 1.000 6 2000 2019
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.040 1.000 4 2007 2018
dbSNP: rs1320702652
rs1320702652
11 0.752 0.160 15 43824536 missense variant G/A snv 4.0E-06 0.040 1.000 4 2003 2014
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.040 1.000 4 1999 2014
dbSNP: rs1022113606
rs1022113606
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.020 1.000 2 2015 2015
dbSNP: rs10927887
rs10927887
3 0.925 0.040 1 16024780 missense variant A/C;G snv 0.55 0.020 1.000 2 2011 2013
dbSNP: rs1799895
rs1799895
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.020 1.000 2 2015 2015
dbSNP: rs1799998
rs1799998
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.020 1.000 2 2013 2020
dbSNP: rs1800888
rs1800888
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.020 1.000 2 2009 2010
dbSNP: rs34376731
rs34376731
2 0.925 0.040 12 54581014 missense variant C/T snv 4.6E-03 1.9E-02 0.020 1.000 2 2008 2009
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.020 1.000 2 2011 2018
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.020 1.000 2 2018 2019