Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs104894833 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 11
rs1888747 1.000 0.120 9 83540636 upstream gene variant C/G snv 0.78 2
rs8731 2 27650459 3 prime UTR variant C/G snv 0.22 1
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs3825172 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 14
rs1800764 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 10
rs1317776692 14 104701619 missense variant C/G;T snv 4.4E-06 1
rs5443 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs12979860 0.547 0.520 19 39248147 intron variant C/T snv 0.39 84
rs2070600 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs11549465 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
rs8192678 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 28
rs375752214 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 22
rs61747728 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 20
rs121913059
CFH
0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 16
rs2808630 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 13
rs11739136 0.827 0.200 5 170383792 missense variant C/T snv 9.9E-02 8.7E-02 10
rs37369 0.807 0.120 5 35037010 missense variant C/T snv 0.21 0.25 9
rs1041740 0.807 0.320 21 31667849 intron variant C/T snv 0.24 8