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: rs9621532
rs9621532
SYN3
4 0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 0.010 1.000 1 2012 2012
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: 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: 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: 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: 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
dbSNP: rs2303790
rs2303790
CETP
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 < 0.001 1 2009 2009
dbSNP: rs754100400
rs754100400
IGFN1
2 0.925 0.040 1 201211089 missense variant A/G snv 7.1E-06 4.6E-05 0.010 1.000 1 2018 2018
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: rs3173800
rs3173800
CD36
2 0.925 0.040 7 80660605 intron variant A/T snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs4455855
rs4455855
ANGPT2 ; MCPH1
2 0.925 0.040 8 6539909 intron variant A/T snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs3764261
rs3764261 		26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.040 1.000 4 2013 2018
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: rs42524
rs42524
COL1A2
6 0.827 0.160 7 94413927 missense variant C/A;G;T snv 8.0E-06; 0.77; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs3793917
rs3793917
HTRA1 ; LOC105378525
3 0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 < 0.001 1 2011 2011
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: rs2511989
rs2511989
SERPING1
3 0.882 0.160 11 57610852 intron variant C/T snv 0.39 0.030 < 0.001 3 2010 2015
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: rs3753394
rs3753394
CFH
5 0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22 0.020 1.000 2 2008 2009
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: 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: rs1883025
rs1883025
ABCA1
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.010 < 0.001 1 2014 2014