Source: BEFREE ×
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
69 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.900 0.936 214 2005 2019
dbSNP: rs800292
rs800292
CFH
29 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.900 0.980 48 2005 2019
dbSNP: rs1410996
rs1410996
CFH
5 0.807 0.240 1 196727803 intron variant G/A snv 0.46 0.900 0.929 12 2007 2019
dbSNP: rs2274700
rs2274700
CFH
6 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
10 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.760 1.000 6 2015 2018
dbSNP: rs1800553
rs1800553
ABCA4
13 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
1 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: rs3753394
rs3753394
CFH
3 0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22 0.040 1.000 4 2006 2019
dbSNP: rs1329428
rs1329428
CFH
6 0.807 0.160 1 196733680 intron variant C/T snv 0.44 0.830 1.000 3 2006 2019
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: 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: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.020 1.000 2 2012 2012
dbSNP: rs3753396
rs3753396
CFH
2 0.925 0.080 1 196726612 synonymous variant A/G snv 0.20 0.15 0.020 1.000 2 2015 2018
dbSNP: rs393955
rs393955
CFH
2 0.925 0.040 1 196723340 intron variant C/A snv 0.65 0.720 1.000 2 2012 2013
dbSNP: rs6677604
rs6677604
CFH
5 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.720 1.000 2 2013 2013
dbSNP: rs771683103
rs771683103
MUTYH
2 0.925 0.120 1 45332048 synonymous variant C/G;T snv 1.2E-05; 1.2E-05 0.020 1.000 2 2012 2012
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2005 2005
dbSNP: rs1060501343
rs1060501343
MUTYH ; TOE1
1 1.000 0.040 1 45340221 splice donor variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1061147
rs1061147
CFH
1 1.000 0.040 1 196685194 synonymous variant A/C snv 0.68 0.62 0.810 1.000 1 2007 2013
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2015 2015
dbSNP: rs10753929
rs10753929
ADIPOR1
1 1.000 0.040 1 202954050 intron variant T/C snv 0.85 0.010 1.000 1 2012 2012
dbSNP: rs10922153
rs10922153
CFHR5
1 1.000 0.040 1 197009485 3 prime UTR variant T/G snv 0.38 0.710 1.000 1 2010 2013
dbSNP: rs1130864
rs1130864
CRP
26 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1205
rs1205
CRP
45 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs12140421
rs12140421
CFHR3
1 1.000 0.040 1 196793654 3 prime UTR variant A/G snv 8.9E-03 0.010 1.000 1 2017 2017