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: rs121908214
rs121908214
4 0.925 0.080 19 13230185 missense variant T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.968 31 2000 2019
dbSNP: rs867770797
rs867770797
8 0.851 0.200 4 147519875 missense variant G/A snv 0.030 1.000 3 2001 2011
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 0.500 2 2001 2004
dbSNP: rs1314386070
rs1314386070
9 0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2003 2018
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.020 0.500 2 2004 2007
dbSNP: rs2236225
rs2236225
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 0.500 2 2005 2014
dbSNP: rs886039322
rs886039322
2 1.000 0.080 19 13312778 missense variant T/C snv 8.9E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.060 0.667 6 2006 2019
dbSNP: rs1043994
rs1043994
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.020 1.000 2 2006 2015
dbSNP: rs121908225
rs121908225
12 0.790 0.120 19 13365448 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 0.500 2 2007 2011
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2007 2007
dbSNP: rs758272654
rs758272654
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 0.750 4 2008 2017
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 0.500 2 2008 2015
dbSNP: rs121918628
rs121918628
5 0.851 0.080 2 165998049 missense variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs4363087
rs4363087
3 0.925 0.160 7 73703866 3 prime UTR variant T/C snv 0.42 0.32 0.020 1.000 2 2009 2012
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 2009 2015
dbSNP: rs941298
rs941298
2 1.000 0.040 7 73710933 intron variant G/A snv 0.28 0.020 1.000 2 2009 2010
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2009 2009
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs16022
rs16022
1 19 13298882 missense variant C/G;T snv 0.13; 4.6E-06 0.010 1.000 1 2009 2009
dbSNP: rs16023
rs16023
1 19 13298658 missense variant T/A;C snv 0.14 0.010 1.000 1 2009 2009