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: rs460897
rs460897
CFH
2 0.925 0.120 1 196747189 missense variant C/T snv 0.750 1.000 5 2006 2010
dbSNP: rs460184
rs460184
CFH
2 0.925 0.120 1 196747207 missense variant T/C snv 4.0E-06 1.4E-05 0.730 1.000 3 2006 2019
dbSNP: rs769742294
rs769742294
CD46
1 1.000 0.120 1 207757204 splice donor variant T/G snv 5.2E-05 4.2E-05 0.700 1.000 11 2006 2017
dbSNP: rs777787526
rs777787526
DGKE ; C17orf67
1 1.000 0.120 17 56835096 stop gained A/G;T snv 8.0E-06 2.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs138924661
rs138924661
TRIM25 ; DGKE
9 0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 0.700 0
dbSNP: rs148605410
rs148605410
DGKE ; C17orf67
2 1.000 0.120 17 56834827 stop gained C/A;G snv 0.700 0
dbSNP: rs312262695
rs312262695
TRIM25 ; DGKE
3 0.925 0.120 17 56847995 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs312262696
rs312262696
TRIM25 ; DGKE
2 0.925 0.120 17 56848695 splice acceptor variant G/A snv 0.700 0
dbSNP: rs312262697
rs312262697
TRIM25 ; DGKE
1 1.000 0.120 17 56848807 stop gained C/T snv 0.700 0
dbSNP: rs312262698
rs312262698
TRIM25 ; DGKE
1 1.000 0.120 17 56844023 frameshift variant -/T delins 0.700 0
dbSNP: rs312262699
rs312262699
TRIM25 ; DGKE
2 1.000 0.120 17 56844039 frameshift variant -/A delins 0.700 0
dbSNP: rs80356746
rs80356746
BAAT
1 1.000 0.120 9 101362827 synonymous variant G/C snv 0.700 0
dbSNP: rs80356747
rs80356747
BAAT
1 1.000 0.120 9 101362718 missense variant T/C snv 0.700 0
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.020 1.000 2 2008 2016
dbSNP: rs45574833
rs45574833
C4BPA ; LOC107985251
1 1.000 0.120 1 207126725 missense variant G/A;C snv 1.4E-02 1.4E-02 0.020 0.500 2 2008 2009
dbSNP: rs976333015
rs976333015
CFH
3 0.882 0.200 1 196673077 missense variant G/A;T snv 0.020 1.000 2 2011 2017
dbSNP: rs1027208016
rs1027208016
CD46
1 1.000 0.120 1 207790269 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2007 2007
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 2019 2019
dbSNP: rs117905900
rs117905900
CFB ; CYP21A2
2 0.925 0.120 6 31948042 missense variant C/G;T snv 1.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs1181467668
rs1181467668
CD46
1 1.000 0.120 1 207793538 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121909583
rs121909583
C3
2 0.925 0.120 19 6709754 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs121909585
rs121909585
C3
4 0.925 0.120 19 6692971 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs121909748
rs121909748
CFB ; CYP21A2
2 0.925 0.120 6 31948443 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs121913063
rs121913063
CFH
2 0.925 0.120 1 196747209 stop gained G/T snv 0.010 1.000 1 2008 2008