Disease: Retinal Diseases
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
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
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs16139
NPY ; LOC107986777
0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs14259
PSMD9
0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 19
rs765798193
PSMD9
0.732 0.320 12 121915884 frameshift variant G/-;GG delins 18
rs3825172
PSMD9
0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 14
rs74421874
PSMD9
0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 14
rs2146323
VEGFA
0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 13
rs1800592 0.807 0.200 4 140572807 upstream gene variant T/C snv 0.40 8
rs11196205
TCF7L2
0.827 0.200 10 113047288 intron variant G/A;C;T snv 7
rs1249719
COL27A1
1.000 0.120 9 114235944 intron variant G/A snv 6.8E-02 2
rs3751624
MYO5C
1.000 0.120 15 52282973 intron variant C/T snv 0.20 2