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: rs185847354
rs185847354
11 0.763 0.160 3 186854460 missense variant T/C snv 3.1E-04 7.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs35511654
rs35511654
3 0.882 0.040 1 111500165 missense variant T/G snv 9.4E-02 9.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2008 2018
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2008 2008
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 1.000 2 2005 2014
dbSNP: rs1199475313
rs1199475313
4 0.851 0.040 8 37966277 missense variant T/C snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs6903956
rs6903956
10 0.763 0.160 6 11774350 intron variant A/G snv 0.65 0.030 1.000 3 2012 2015
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.040 0.750 4 2007 2016
dbSNP: rs184003
rs184003
15 0.724 0.400 6 32182519 intron variant C/A snv 0.12 0.12 0.010 1.000 1 2019 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 1.000 11 1999 2016
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.020 1.000 2 1999 2013
dbSNP: rs762079672
rs762079672
AGT
4 0.882 0.040 1 230710211 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs150629733
rs150629733
4 0.851 0.080 3 148741190 missense variant T/C;G snv 4.0E-06; 8.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs3772622
rs3772622
4 0.851 0.080 3 148717966 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs5182
rs5182
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 < 0.001 1 1994 1994
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 2013 2013
dbSNP: rs553350297
rs553350297
4 0.882 0.040 3 148741588 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs37369
rs37369
9 0.807 0.120 5 35037010 missense variant C/T snv 0.21 0.25 0.010 1.000 1 2014 2014
dbSNP: rs2518136
rs2518136
4 0.851 0.120 3 186620038 intron variant T/C snv 0.46 0.010 < 0.001 1 2012 2012
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.060 1.000 6 2010 2018
dbSNP: rs756140607
rs756140607
3 0.882 0.040 12 111790509 missense variant G/A snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs34210653
rs34210653
8 0.807 0.280 17 4632019 missense variant G/A snv 2.7E-02 1.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs116843064
rs116843064
16 0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs1264352930
rs1264352930
6 0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06 0.010 1.000 1 1996 1996
dbSNP: rs1384889210
rs1384889210
5 0.827 0.040 11 116836193 missense variant C/A snv 0.010 1.000 1 1996 1996