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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.972 36 2004 2019
dbSNP: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.100 1.000 16 2002 2019
dbSNP: rs2205960
rs2205960
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.880 1.000 12 2009 2019
dbSNP: rs1234315
rs1234315
6 0.807 0.400 1 173209324 upstream gene variant C/T snv 0.57 0.060 1.000 6 2011 2019
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.810 1.000 5 2008 2017
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.050 0.800 5 2007 2017
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.040 1.000 4 2000 2009
dbSNP: rs1308699981
rs1308699981
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.040 1.000 4 2002 2010
dbSNP: rs17849502
rs17849502
5 0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02 0.720 1.000 4 2012 2019
dbSNP: rs3024493
rs3024493
9 0.776 0.280 1 206770623 intron variant C/A;T snv 0.11 0.720 1.000 4 2013 2019
dbSNP: rs3024505
rs3024505
10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.720 1.000 4 2009 2015
dbSNP: rs560051377
rs560051377
5 0.851 0.320 1 161624624 missense variant G/A;C snv 4.0E-06; 2.8E-05 0.040 1.000 4 2002 2010
dbSNP: rs6679677
rs6679677
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 4 2015 2019
dbSNP: rs704840
rs704840
4 0.851 0.240 1 173257056 intergenic variant T/G snv 0.29 0.810 1.000 4 2013 2016
dbSNP: rs10489265
rs10489265
5 0.827 0.200 1 173266926 regulatory region variant A/C snv 0.21 0.720 1.000 3 2012 2013
dbSNP: rs10917661
rs10917661
3 0.882 0.160 1 161671427 stop gained C/T snv 2.8E-05 0.030 1.000 3 2006 2008
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.030 0.667 3 2018 2019
dbSNP: rs1884444
rs1884444
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.030 1.000 3 2010 2016
dbSNP: rs396991
rs396991
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.030 1.000 3 2002 2013
dbSNP: rs844648
rs844648
6 0.807 0.280 1 173254724 regulatory region variant G/A snv 0.46 0.720 1.000 3 2009 2013
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.020 1.000 2 2011 2011
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.020 1.000 2 2010 2013
dbSNP: rs10911363
rs10911363
2 0.925 0.120 1 183580622 intron variant G/T snv 0.30 0.710 1.000 2 2009 2011
dbSNP: rs10912578
rs10912578
1 1.000 0.080 1 173282717 intergenic variant A/G snv 0.63 0.700 1.000 2 2015 2016
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.020 1.000 2 2017 2018