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: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs1042229
rs1042229
FPR1
7 0.790 0.280 19 51746419 missense variant A/C;G snv 0.32; 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.010 1.000 1 2011 2011
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.100 0.923 26 2007 2019
dbSNP: rs1049331
rs1049331
HTRA1 ; LOC105378525
5 0.851 0.040 10 122461754 synonymous variant C/T snv 0.32 0.23 0.010 1.000 1 2016 2016
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.060 0.833 6 2008 2013
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 < 0.001 1 2015 2015
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs11200638
rs11200638
HTRA1 ; LOC105378525
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.100 0.900 10 2007 2016
dbSNP: rs1136287
rs1136287
SERPINF1
8 0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69 0.020 1.000 2 2009 2012
dbSNP: rs11775442
rs11775442
ANGPT2 ; MCPH1
2 0.925 0.040 8 6538837 intron variant A/G snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs12678919
rs12678919 		10 0.882 0.080 8 19986711 intergenic variant A/G snv 1.0E-01 0.020 < 0.001 2 2013 2015
dbSNP: rs13095226
rs13095226
COL8A1
5 0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs13269021
rs13269021
ANGPT2 ; MCPH1
2 0.925 0.040 8 6539242 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1329428
rs1329428
CFH
9 0.807 0.160 1 196733680 intron variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs138195505
rs138195505
C2 ; CYP21A2
2 0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs1410996
rs1410996
CFH
11 0.807 0.240 1 196727803 intron variant G/A snv 0.46 0.010 1.000 1 2010 2010
dbSNP: rs1532085
rs1532085
ALDH1A2
13 0.882 0.080 15 58391167 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs17030
rs17030
C3
2 0.925 0.080 19 6677978 synonymous variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1713985
rs1713985
REST
4 0.882 0.040 4 56920284 intron variant G/T snv 0.92 0.010 < 0.001 1 2012 2012
dbSNP: rs1883025
rs1883025
ABCA1
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.010 < 0.001 1 2014 2014
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs2070746
rs2070746
FPR1
3 0.882 0.040 19 51746449 synonymous variant G/T snv 0.34 0.30 0.010 1.000 1 2014 2014
dbSNP: rs2072633
rs2072633
CFB ; CYP21A2 ; NELFE
6 0.807 0.320 6 31951801 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 < 0.001 1 2013 2013