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: rs6857
rs6857
NECTIN2
16 0.790 0.240 19 44888997 3 prime UTR variant C/T snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs7676999
rs7676999 		1 1.000 0.040 4 116012923 intron variant C/T snv 0.16 0.800 1.000 1 2013 2013
dbSNP: rs9380272
rs9380272
C2 ; CYP21A2 ; C2-AS1
1 1.000 0.040 6 31938233 intron variant G/A snv 0.800 1.000 1 2010 2010
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.760 1.000 7 2015 2018
dbSNP: rs141853578
rs141853578
CFI
6 0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04 0.750 1.000 6 2013 2019
dbSNP: rs1883025
rs1883025
ABCA1
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.740 0.600 5 2011 2018
dbSNP: rs9621532
rs9621532
SYN3
4 0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 0.730 1.000 6 2010 2019
dbSNP: rs1045216
rs1045216
PLEKHA1
1 1.000 0.040 10 122429681 missense variant A/G snv 0.68 0.69 0.730 0.750 4 2013 2018
dbSNP: rs147859257
rs147859257
C3
6 0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03 0.720 1.000 3 2014 2018
dbSNP: rs3750847
rs3750847
ARMS2 ; LOC105378525
4 0.882 0.040 10 122455905 intron variant C/T snv 0.23 0.720 1.000 3 2011 2018
dbSNP: rs393955
rs393955
CFH
2 0.925 0.040 1 196723340 intron variant C/A snv 0.65 0.720 1.000 3 2012 2013
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.720 1.000 3 2006 2018
dbSNP: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.720 1.000 3 2013 2013
dbSNP: rs1853883
rs1853883
CFHR4 ; LOC105371675
1 1.000 0.040 1 196912470 intron variant G/C;T snv 0.710 1.000 4 2010 2013
dbSNP: rs572515
rs572515
CFH
2 0.925 0.160 1 196677131 non coding transcript exon variant A/G;T snv 0.710 1.000 4 2008 2013
dbSNP: rs6667243
rs6667243 		1 1.000 0.040 1 196972363 downstream gene variant T/C snv 0.62 0.710 1.000 4 2011 2013
dbSNP: rs10922153
rs10922153
CFHR5
1 1.000 0.040 1 197009485 3 prime UTR variant T/G snv 0.38 0.710 1.000 3 2010 2013
dbSNP: rs2014307
rs2014307
LOC105378525
2 0.925 0.160 10 122458116 intron variant T/G snv 0.63 0.710 1.000 3 2008 2010
dbSNP: rs203674
rs203674
CFH
1 1.000 0.040 1 196715495 intron variant G/T snv 0.65 0.710 1.000 3 2010 2015
dbSNP: rs2672587
rs2672587
HTRA1
1 1.000 0.040 10 122475839 intron variant G/C;T snv 0.710 1.000 3 2010 2013
dbSNP: rs6685931
rs6685931
CFHR4
2 1.000 0.040 1 196898103 intron variant T/C snv 0.28 0.710 1.000 3 2011 2018
dbSNP: rs13095226
rs13095226
COL8A1
5 0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 0.710 1.000 2 2011 2019
dbSNP: rs140647181
rs140647181
LOC105374007
4 0.851 0.040 3 99461824 intergenic variant T/C snv 1.5E-02 0.710 1.000 2 2016 2018
dbSNP: rs148553336
rs148553336 		4 0.851 0.040 1 196644043 intergenic variant T/C snv 7.7E-03 0.710 1.000 2 2016 2018
dbSNP: rs16840639
rs16840639 		2 0.925 0.120 1 196855643 intron variant T/C snv 0.23 0.710 1.000 2 2013 2013