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
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs1065489
CFH
0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 19
rs10737680
CFH
0.827 0.080 1 196710325 intron variant A/C snv 0.44 9
rs10922109
CFH
0.827 0.080 1 196735502 intron variant C/A snv 0.46 6
rs121913059
CFH
0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 16
rs148553336 0.851 0.040 1 196644043 intergenic variant T/C snv 7.7E-03 4
rs187328863
KCNT2
0.851 0.040 1 196411028 intron variant C/T snv 1.6E-02 4
rs191281603
CFHR5
0.851 0.040 1 196989521 intron variant C/G;T snv 4.6E-03 4
rs2274700
CFH
0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 11
rs35292876
CFH
0.851 0.040 1 196737512 synonymous variant C/T snv 1.0E-02 8.6E-03 4
rs570618
CFH
0.827 0.040 1 196687934 intron variant T/G snv 0.69 6
rs61818925 0.851 0.040 1 196846320 upstream gene variant T/G snv 0.67 4
rs800292
CFH
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 33
rs11884770
COL4A3 ; MFF-DT
0.851 0.040 2 227222204 intron variant T/A;C snv 4
rs13095226
COL8A1
0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 5
rs140647181
LOC105374007
0.851 0.040 3 99461824 intergenic variant T/C snv 1.5E-02 4
rs55975637
COL8A1
0.851 0.040 3 99701009 intron variant G/A;T snv 4
rs62247658
ADAMTS9-AS2
0.851 0.040 3 64729479 intron variant C/T snv 0.42 4
rs10033900
CFI
0.807 0.040 4 109737911 intron variant T/C snv 0.54 7
rs141853578
CFI
0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04 6
rs2071559
KDR
0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 26
rs2285714
PLA2G12A
0.882 0.040 4 109717654 synonymous variant C/T snv 0.37 0.31 3
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs114092250 0.851 0.040 5 35494346 intergenic variant G/A;T snv 4
rs62358361
C9
0.851 0.040 5 39327786 intron variant G/C;T snv 5