Disease: Exudative age-related macular degeneration
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs2075650
TOMM40
0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 45
rs800292
CFH
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 33
rs3764261 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 26
rs1065489
CFH
0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 19
rs2303790
CETP
0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 19
rs10490924
ARMS2 ; LOC105378525
0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 16
rs11200638
LOC105378525 ; HTRA1
0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 14
rs1883025
ABCA1
0.807 0.120 9 104902020 intron variant C/T snv 0.28 13
rs2274700
CFH
0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 11
rs9332739
CYP21A2 ; C2-AS1 ; C2
0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 10
rs57137919
ABCG1 ; LOC105372814
0.776 0.160 21 42218908 intron variant G/A snv 0.14 9
rs1136287
SERPINF1
0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69 8
rs10033900
CFI
0.807 0.040 4 109737911 intron variant T/C snv 0.54 7
rs641153
CFB ; CYP21A2
0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 7
rs42524
COL1A2
0.827 0.160 7 94413927 missense variant C/A;G;T snv 8.0E-06; 0.77; 8.0E-06 6
rs943080
LOC107986598
0.807 0.040 6 43858890 TF binding site variant C/T snv 0.61 6
rs13095226
COL8A1
0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 5
rs3750847
LOC105378525 ; ARMS2
0.882 0.040 10 122455905 intron variant C/T snv 0.23 4
rs9621532
SYN3
0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 4
rs1999930
FRK
0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 3
rs2285714
PLA2G12A
0.882 0.040 4 109717654 synonymous variant C/T snv 0.37 0.31 3
rs3793917
HTRA1 ; LOC105378525
0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23 3
rs4711751
LOC107986598
0.882 0.040 6 43860845 intergenic variant T/C snv 0.37 3