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: rs2230199
rs2230199
C3
8 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.900 0.852 19 2009 2020
dbSNP: rs641153
rs641153
CFB ; CYP21A2
5 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.900 0.947 16 2007 2019
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.090 0.889 9 2002 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: rs2736911
rs2736911
ARMS2 ; LOC105378525
3 0.882 0.120 10 122454839 stop gained C/A;T snv 4.0E-06; 0.13 0.060 0.833 6 2012 2016
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.060 0.667 6 2008 2018
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.060 0.833 6 2009 2019
dbSNP: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
7 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.860 1.000 6 2006 2018
dbSNP: rs1047286
rs1047286
C3
2 0.925 0.160 19 6713251 missense variant G/A;C snv 0.14; 4.0E-06 0.050 0.800 5 2010 2015
dbSNP: rs1413711
rs1413711
VEGFA
3 0.882 0.200 6 43772941 intron variant T/A;C snv 0.040 1.000 4 2012 2014
dbSNP: rs4986790
rs4986790
TLR4
221 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 0.250 4 2005 2009
dbSNP: rs61755792
rs61755792
PRPH2
9 0.763 0.160 6 42721821 missense variant G/A;C snv 0.040 1.000 4 1995 2014
dbSNP: rs111033578
rs111033578
MFRP ; C1QTNF5
5 0.827 0.200 11 119339574 missense variant G/C snv 0.030 1.000 3 2005 2018
dbSNP: rs13278062
rs13278062
TNFRSF10A ; LOC389641
8 0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv 0.830 1.000 3 2011 2019
dbSNP: rs757537938
rs757537938
C2 ; CYP21A2 ; C2-AS1
3 0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06 0.030 1.000 3 2006 2009
dbSNP: rs854560
rs854560
PON1
110 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.030 0.667 3 2004 2013
dbSNP: rs12614
rs12614
CFB ; CYP21A2
2 0.851 0.160 6 31946402 missense variant C/G;T snv 4.1E-06; 0.12 0.020 0.500 2 2014 2019
dbSNP: rs12778366
rs12778366
SIRT1
13 0.724 0.480 10 67883321 upstream gene variant T/C;G snv 0.020 1.000 2 2015 2019
dbSNP: rs137853006
rs137853006
PROM1
7 0.776 0.080 4 16013299 missense variant G/A snv 0.020 1.000 2 2010 2017
dbSNP: rs138195505
rs138195505
C2 ; CYP21A2
2 0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05 0.020 1.000 2 2007 2012
dbSNP: rs1531289
rs1531289
KDR
2 0.925 0.080 4 55089065 intron variant T/A;C snv 0.020 1.000 2 2012 2019
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.820 0.667 2 2011 2018
dbSNP: rs2293870
rs2293870
HTRA1 ; LOC105378525
4 0.851 0.160 10 122461760 synonymous variant G/C;T snv 5.9E-02; 0.32 0.020 1.000 2 2008 2008
dbSNP: rs3826945
rs3826945
CFD
1 1.000 0.040 19 862912 intron variant C/G;T snv 0.020 0.500 2 2011 2018
dbSNP: rs5888
rs5888
SCARB1
11 0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06 0.020 1.000 2 2009 2017