Disease: Diabetic Retinopathy
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6704078 0.925 0.200 1 216437370 intergenic variant C/T snv 0.94 2
rs1400094618
MOK
0.882 0.240 14 102229508 missense variant A/G snv 3
rs7756992
CDKAL1
0.827 0.240 6 20679478 intron variant A/G;T snv 12
rs955333 0.882 0.240 6 154626274 intergenic variant A/G snv 0.13 3
rs660339
UCP2
0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 24
rs759853
AKR1B1
0.827 0.320 7 134459206 non coding transcript exon variant G/A snv 0.33 6
rs765798193
PSMD9
0.732 0.320 12 121915884 frameshift variant G/-;GG delins 18
rs14259
PSMD9
0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 19
rs1549758
NOS3
0.807 0.360 7 150998638 synonymous variant T/C snv 0.76 0.76 7
rs237025
SUMO4 ; TAB2
0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 26
rs713041
GPX4
0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 16
rs8192678
PPARGC1A
0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 28
rs16139
NPY ; LOC107986777
0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs1049353
CNR1
0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 42
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs1800625
AGER ; PBX2
0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 39
rs2070744
NOS3
0.608 0.680 7 150992991 intron variant C/T snv 0.70 54
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs1501299
ADIPOQ ; ADIPOQ-AS1
0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs2241766
ADIPOQ ; ADIPOQ-AS1
0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99