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: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.900 0.936 218 2005 2019
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.900 0.980 51 2005 2019
dbSNP: rs1410996
rs1410996
CFH
11 0.807 0.240 1 196727803 intron variant G/A snv 0.46 0.900 0.929 14 2007 2019
dbSNP: rs2274700
rs2274700
CFH
11 0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 0.080 1.000 8 2007 2018
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: rs1329428
rs1329428
CFH
9 0.807 0.160 1 196733680 intron variant C/T snv 0.44 0.830 1.000 6 2006 2019
dbSNP: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.060 0.833 6 1999 2019
dbSNP: rs121434382
rs121434382
HMCN1
3 0.925 0.040 1 186178506 missense variant A/G snv 7.3E-04 6.8E-04 0.050 1.000 5 2004 2007
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.800 1.000 4 2010 2013
dbSNP: rs10801555
rs10801555
CFH
1 1.000 0.040 1 196691131 intron variant A/G snv 0.64 0.800 1.000 4 2011 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: rs3753394
rs3753394
CFH
5 0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22 0.040 1.000 4 2006 2019
dbSNP: rs380390
rs380390
CFH
2 0.925 0.160 1 196731921 intron variant G/A;C;T snv 0.810 1.000 4 2005 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: rs10733086
rs10733086
CFH
1 1.000 0.040 1 196707805 intron variant A/C;T snv 0.800 1.000 3 2013 2018
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: rs1800555
rs1800555
ABCA4
1 1.000 0.040 1 93998061 missense variant C/T snv 1.1E-02 1.0E-02 0.030 0.667 3 2000 2015
dbSNP: rs2019727
rs2019727
CFH
1 1.000 0.040 1 196705584 intron variant T/A snv 0.24 0.700 1.000 3 2010 2013
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: 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: rs551397
rs551397
CFH
1 1.000 0.040 1 196672942 intron variant C/T snv 0.31 0.40 0.030 1.000 3 2008 2018
dbSNP: rs6428357
rs6428357
CFH
1 1.000 0.040 1 196706441 intron variant A/G snv 0.62 0.700 1.000 3 2011 2013
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: rs6685931
rs6685931
CFHR4
2 1.000 0.040 1 196898103 intron variant T/C snv 0.28 0.710 1.000 3 2011 2018