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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.865 89 1994 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.862 29 1998 2019
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.100 0.727 22 1994 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2008 2015
dbSNP: rs5063
rs5063
12 0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02 0.060 1.000 6 2007 2019
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.040 0.750 4 2012 2018
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.040 1.000 4 2009 2018
dbSNP: rs4606
rs4606
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.040 1.000 4 2013 2018
dbSNP: rs12140311
rs12140311
3 1.000 0.040 1 16052230 missense variant A/C;T snv 8.0E-06; 9.6E-02 0.030 0.667 3 2005 2009
dbSNP: rs17367504
rs17367504
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.030 0.667 3 2011 2017
dbSNP: rs5065
rs5065
12 0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21 0.030 1.000 3 2007 2011
dbSNP: rs5068
rs5068
13 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 0.030 1.000 3 2009 2017
dbSNP: rs777208537
rs777208537
REN
2 1.000 0.040 1 204156313 synonymous variant A/G snv 4.0E-06 0.030 1.000 3 1999 2003
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.020 0.500 2 2008 2012
dbSNP: rs1126742
rs1126742
4 0.925 0.040 1 46932824 missense variant A/G snv 0.17 0.20 0.020 1.000 2 2014 2018
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.020 1.000 2 2012 2019
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2013
dbSNP: rs148446907
rs148446907
AGT
3 0.925 0.080 1 230710026 synonymous variant G/A;C snv 1.2E-05 0.020 1.000 2 2000 2003
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2014 2019
dbSNP: rs198358
rs198358
4 0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32 0.020 1.000 2 2009 2011
dbSNP: rs200339834
rs200339834
1 1 192810186 missense variant G/A snv 1.2E-04 7.0E-05 0.020 1.000 2 2005 2008
dbSNP: rs2004776
rs2004776
AGT
5 1 230712956 intron variant C/G;T snv 0.020 1.000 2 2011 2019
dbSNP: rs212528
rs212528
3 0.925 0.040 1 21259168 intron variant T/C snv 0.12 0.020 1.000 2 2007 2014
dbSNP: rs2493134
rs2493134
AGT
4 1 230713613 intron variant T/C snv 0.57 0.020 1.000 2 2016 2019
dbSNP: rs2932538
rs2932538
4 1 112673921 intron variant A/C;G snv 0.810 1.000 2 2011 2013