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
rs201459901 0.851 0.040 20 58078668 regulatory region variant -/A delins 0.21 4
rs5817082
CETP
0.851 0.040 16 56963437 intron variant -/A delins 4
rs71507014
TRPM3
0.851 0.040 9 70823689 intron variant -/C;CC delins 4
rs10737680
CFH
0.827 0.080 1 196710325 intron variant A/C snv 0.44 9
rs11080055
TMEM97
0.851 0.040 17 28322698 intron variant A/C snv 0.54 5
rs2740488
ABCA1
0.827 0.120 9 104899461 intron variant A/C snv 0.29 9
rs9621532
SYN3
0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 4
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs114254831
PBX2
0.827 0.040 6 32187804 intron variant A/G snv 5
rs2071559
KDR
0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 26
rs2075650
TOMM40
0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 45
rs2303790
CETP
0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 19
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs10922109
CFH
0.827 0.080 1 196735502 intron variant C/A snv 0.46 6
rs2146323
VEGFA
0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 13
rs3138141
RDH5 ; BLOC1S1-RDH5
0.827 0.040 12 55721994 3 prime UTR variant C/A snv 0.19 0.16 5
rs3764261 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 26
rs72802342 0.851 0.040 16 75200974 downstream gene variant C/A snv 6.2E-02 5
rs1999930
FRK
0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 3
rs2736911
ARMS2 ; LOC105378525
0.882 0.120 10 122454839 stop gained C/A;T snv 4.0E-06; 0.13 3
rs3793917
HTRA1 ; LOC105378525
0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23 3
rs1064039
CST3
0.827 0.200 20 23637790 missense variant C/G;T snv 0.20 6
rs17231506
CETP
0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28 10
rs191281603
CFHR5
0.851 0.040 1 196989521 intron variant C/G;T snv 4.6E-03 4