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: rs74577862
rs74577862
3 0.882 0.080 3 186843903 intron variant G/A snv 1.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs138227502
rs138227502
2 0.925 0.040 3 186853221 missense variant C/T snv 1.8E-04 5.6E-04 0.010 1.000 1 2017 2017
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 2002 2002
dbSNP: rs201989364
rs201989364
3 0.882 0.080 3 186854295 missense variant A/G snv 6.4E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2007 2007
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs6903956
rs6903956
10 0.763 0.160 6 11774350 intron variant A/G snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs2269422
rs2269422
3 0.882 0.040 6 32183517 intron variant T/C snv 1.7E-02 5.8E-03 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 0.020 1.000 2 1999 2007
dbSNP: rs5182
rs5182
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 1.000 1 2007 2007
dbSNP: rs16899974
rs16899974
5 0.827 0.120 5 34998772 missense variant C/A snv 0.24 0.19 0.010 1.000 1 2015 2015
dbSNP: rs180749
rs180749
1 1.000 0.040 5 35033500 missense variant G/A snv 0.95 0.94 0.010 1.000 1 2015 2015
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 0.020 1.000 2 2019 2019
dbSNP: rs7217186
rs7217186
5 0.827 0.120 17 4636097 intron variant C/T snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs12762303
rs12762303
4 0.851 0.080 10 45373723 upstream gene variant T/C snv 0.17 0.010 < 0.001 1 2008 2008
dbSNP: rs116843064
rs116843064
16 0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02 0.030 1.000 3 2008 2009
dbSNP: rs4076317
rs4076317
5 0.882 0.080 19 8364115 intron variant C/G snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs1264352930
rs1264352930
6 0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06 0.020 1.000 2 2012 2015
dbSNP: rs1384889210
rs1384889210
5 0.827 0.040 11 116836193 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs3135506
rs3135506
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.010 1.000 1 2004 2004
dbSNP: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2018 2018
dbSNP: rs200222843
rs200222843
4 0.851 0.120 2 21003286 missense variant G/A snv 4.0E-05 4.2E-05 0.010 1.000 1 1989 1989
dbSNP: rs11542041
rs11542041
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.030 1.000 3 1998 2000
dbSNP: rs121918393
rs121918393
6 0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05 0.010 1.000 1 2003 2003