Disease: Retinal Diseases
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 17
rs121434491
EFEMP1 ; LOC112268416
0.752 0.200 2 55871091 missense variant G/A snv 15
rs2146323
VEGFA
0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 13
rs137853006
PROM1
0.776 0.080 4 16013299 missense variant G/A snv 11
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06 8