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: rs2511989
rs2511989
SERPING1
3 0.882 0.160 11 57610852 intron variant C/T snv 0.39 0.030 < 0.001 3 2010 2015
dbSNP: rs12678919
rs12678919 		10 0.882 0.080 8 19986711 intergenic variant A/G snv 1.0E-01 0.020 < 0.001 2 2013 2015
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 < 0.001 1 2015 2015
dbSNP: rs13095226
rs13095226
COL8A1
5 0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1713985
rs1713985
REST
4 0.882 0.040 4 56920284 intron variant G/T snv 0.92 0.010 < 0.001 1 2012 2012
dbSNP: rs1883025
rs1883025
ABCA1
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.010 < 0.001 1 2014 2014
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 < 0.001 1 2013 2013
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 < 0.001 1 2009 2009
dbSNP: rs493258
rs493258
ALDH1A2
3 0.925 0.040 15 58395681 intron variant T/C snv 0.50 0.010 < 0.001 1 2013 2013
dbSNP: rs2301995
rs2301995
ELN
3 0.882 0.160 7 74037810 non coding transcript exon variant G/A snv 0.11 0.020 0.500 2 2011 2011
dbSNP: rs4711751
rs4711751
LOC107986598
3 0.882 0.040 6 43860845 intergenic variant T/C snv 0.37 0.020 0.500 2 2014 2015
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.060 0.833 6 2008 2013
dbSNP: rs11200638
rs11200638
HTRA1 ; LOC105378525
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.100 0.900 10 2007 2016
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.100 0.923 26 2007 2019
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.100 1.000 12 2008 2017
dbSNP: rs547154
rs547154
C2 ; CYP21A2 ; C2-AS1
3 0.882 0.160 6 31943161 intron variant G/T snv 0.12 0.050 1.000 5 2009 2015
dbSNP: rs3764261
rs3764261 		26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.040 1.000 4 2013 2018
dbSNP: rs57137919
rs57137919
ABCG1 ; LOC105372814
9 0.776 0.160 21 42218908 intron variant G/A snv 0.14 0.030 1.000 3 2014 2018
dbSNP: rs1136287
rs1136287
SERPINF1
8 0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69 0.020 1.000 2 2009 2012
dbSNP: rs3753394
rs3753394
CFH
5 0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22 0.020 1.000 2 2008 2009
dbSNP: rs4151667
rs4151667
CFB ; CYP21A2
9 0.790 0.320 6 31946247 missense variant T/A snv 3.9E-02 3.4E-02 0.020 1.000 2 2009 2014
dbSNP: rs833069
rs833069
VEGFA
5 0.851 0.200 6 43774842 non coding transcript exon variant T/C;G snv 0.020 1.000 2 2012 2015
dbSNP: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.010 1.000 1 2014 2014