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 0.760 1.000 7 2006 2018
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 1 2016 2016
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.030 1.000 3 2008 2016
dbSNP: rs3732378
rs3732378
CX3CR1
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.010 1.000 1 2012 2012
dbSNP: rs3732379
rs3732379
CX3CR1
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.010 1.000 1 2012 2012
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2016 2016
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.800 1.000 14 2008 2016
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs2070895
rs2070895
LIPC ; ALDH1A2
15 0.807 0.120 15 58431740 intron variant G/A snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs11200638
rs11200638
HTRA1 ; LOC105378525
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.040 1.000 4 2007 2012
dbSNP: rs61755783
rs61755783
PRPH2
11 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs2230199
rs2230199
C3
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.720 1.000 4 2012 2016
dbSNP: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.710 1.000 2 2012 2012
dbSNP: rs17231506
rs17231506
CETP
10 0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs61755792
rs61755792
PRPH2
10 0.763 0.160 6 42721821 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs2043085
rs2043085
ALDH1A2
9 0.827 0.080 15 58388755 intron variant T/C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs2740488
rs2740488
ABCA1
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs4151667
rs4151667
CFB ; CYP21A2
9 0.790 0.320 6 31946247 missense variant T/A snv 3.9E-02 3.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs641153
rs641153
CFB ; CYP21A2
7 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.710 1.000 2 2012 2019
dbSNP: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs10922109
rs10922109
CFH
6 0.827 0.080 1 196735502 intron variant C/A snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs1142
rs1142
SRPK2
6 0.851 0.040 7 105115879 intron variant C/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs121918567
rs121918567
PRPH2
6 0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2009 2009