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: rs778139192
rs778139192
14 0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 0.700 0
dbSNP: rs6471
rs6471
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.030 0.667 3 2000 2011
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 0.500 2 2000 2005
dbSNP: rs1801278
rs1801278
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.100 0.833 18 2001 2017
dbSNP: rs6165
rs6165
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.100 0.700 10 2001 2017
dbSNP: rs6166
rs6166
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.090 0.667 9 2001 2017
dbSNP: rs1805097
rs1805097
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.080 0.875 8 2001 2016
dbSNP: rs1181860747
rs1181860747
10 0.776 0.240 19 7122961 missense variant C/T snv 0.060 1.000 6 2001 2016
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.100 0.789 19 2002 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.100 0.778 18 2002 2013
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2002 2002
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.900 10 2003 2019
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.030 0.667 3 2003 2014
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs141012637
rs141012637
4 0.851 0.320 18 63901881 stop gained C/A;T snv 7.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs779829591
rs779829591
F3
5 0.827 0.320 1 94532395 missense variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.100 0.727 11 2004 2019
dbSNP: rs6259
rs6259
27 0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02 0.060 0.833 6 2004 2019
dbSNP: rs1489441940
rs1489441940
2 0.925 0.200 20 50510548 missense variant C/G;T snv 6.4E-06; 4.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs6688832
rs6688832
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.030 1.000 3 2005 2015
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2005 2005
dbSNP: rs898611
rs898611
1 1.000 0.120 12 56769532 intron variant C/G;T snv 0.040 0.250 4 2006 2015
dbSNP: rs12086634
rs12086634
6 0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20 0.030 1.000 3 2006 2011