Source: ALL
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: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.100 0.903 31 2001 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.833 12 2006 2019
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.100 1.000 10 2001 2018
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.090 0.889 9 2008 2020
dbSNP: rs1805094
rs1805094
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.080 1.000 8 2001 2019
dbSNP: rs1256046734
rs1256046734
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.060 1.000 6 2009 2018
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.040 0.750 4 2004 2007
dbSNP: rs2282440
rs2282440
4 0.882 0.240 1 30874473 missense variant G/A;C snv 9.3E-02 0.040 1.000 4 2006 2018
dbSNP: rs10913469
rs10913469
7 1.000 0.080 1 177944384 intron variant T/C snv 0.22 0.720 0.667 3 2009 2013
dbSNP: rs16835198
rs16835198
3 0.882 0.200 1 32861080 downstream gene variant G/T snv 0.29 0.030 0.667 3 2014 2019
dbSNP: rs543874
rs543874
11 1.000 0.080 1 177920345 upstream gene variant A/G snv 0.21 0.030 1.000 3 2012 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.030 1.000 3 2002 2012
dbSNP: rs2274907
rs2274907
5 0.851 0.200 1 160882036 missense variant A/G;T snv 0.66 0.020 1.000 2 2015 2018
dbSNP: rs2568958
rs2568958
8 0.882 0.160 1 72299433 intron variant G/A;C snv 0.810 1.000 2 2013 2014
dbSNP: rs2605100
rs2605100
3 1.000 0.080 1 219470882 intergenic variant A/G snv 0.77 0.710 1.000 2 2009 2011
dbSNP: rs3101336
rs3101336
6 1.000 0.080 1 72285502 intron variant T/C snv 0.62 0.800 1.000 2 2013 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2016
dbSNP: rs5082
rs5082
8 0.807 0.160 1 161223893 upstream gene variant G/A snv 0.68 0.020 1.000 2 2015 2018
dbSNP: rs6688832
rs6688832
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.020 1.000 2 2012 2019
dbSNP: rs80356814
rs80356814
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.020 0.500 2 2004 2011
dbSNP: rs10082248
rs10082248
1 1.000 0.080 1 209693771 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1040070
rs1040070
2 1.000 0.080 1 74512186 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10475
rs10475
1 1.000 0.080 1 212620271 3 prime UTR variant T/C snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2014 2014
dbSNP: rs10783050
rs10783050
1 1.000 0.080 1 96571527 intergenic variant T/C snv 0.28 0.010 1.000 1 2015 2015