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: 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: 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: 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: 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: rs1253615192
rs1253615192
HTRA1 ; LOC105378525
2 0.925 0.040 10 122461959 missense variant C/G snv 7.0E-06 0.020 1.000 2 2008 2011
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: rs179008
rs179008
TLR7
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2008 2008
dbSNP: rs2287074
rs2287074
MMP2
4 0.851 0.120 16 55493201 synonymous variant G/A;C snv 0.39; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs376409934
rs376409934
JTB ; CREB3L4
1 1.000 0.040 1 153974702 missense variant G/A;C snv 4.4E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs9288410
rs9288410
MAP2
2 0.925 0.160 2 209633537 intron variant G/A snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs2230199
rs2230199
C3
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.900 0.852 27 2009 2020
dbSNP: rs4151667
rs4151667
CFB ; CYP21A2
9 0.790 0.320 6 31946247 missense variant T/A snv 3.9E-02 3.4E-02 0.070 1.000 7 2009 2019
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: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.050 0.800 5 2009 2019
dbSNP: rs2072633
rs2072633
CFB ; CYP21A2 ; NELFE
6 0.807 0.320 6 31951801 3 prime UTR variant A/G snv 0.59 0.030 1.000 3 2009 2019
dbSNP: rs1048709
rs1048709
CFB ; CYP21A2
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.020 0.500 2 2009 2019
dbSNP: rs2250656
rs2250656
C3
4 0.882 0.160 19 6718523 intron variant T/C snv 0.25 0.020 0.500 2 2009 2015
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
dbSNP: rs10411506
rs10411506
C3
2 0.925 0.160 19 6710937 non coding transcript exon variant G/A snv 0.17 0.14 0.010 1.000 1 2009 2009
dbSNP: rs1155974
rs1155974
TNMD
2 0.925 0.120 X 100598284 intron variant C/T snv 0.34 0.010 1.000 1 2009 2009
dbSNP: rs1326505941
rs1326505941
HTRA1 ; LOC105378526
1 1.000 0.040 10 122489474 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs1460548929
rs1460548929
PRKCSH
2 0.925 0.040 19 11442432 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs151207349
rs151207349
PRKCSH
2 0.925 0.040 19 11441343 missense variant C/T snv 7.0E-04 5.7E-04 0.010 1.000 1 2009 2009
dbSNP: rs163913
rs163913
C3
2 0.925 0.160 19 6722624 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2073163
rs2073163
TNMD
2 0.925 0.120 X 100594054 intron variant T/C snv 0.41 0.39 0.010 1.000 1 2009 2009