Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs3024505 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 10
rs13194491 1.000 0.040 6 27069301 intergenic variant C/T snv 4.8E-02 5
rs12762549 1.000 0.040 10 99861014 intergenic variant C/G;T snv 1
rs363717 1.000 0.040 9 104782419 3 prime UTR variant C/T snv 0.85 1
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1128503 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs866082104 0.925 0.120 X 75053456 missense variant C/T snv 3
rs373533 0.925 0.160 19 6919613 missense variant A/C snv 0.77 0.73 2
rs1554544862 1.000 0.040 8 41694003 frameshift variant TGGAACTTCCGGCGCCGGGG/- delins 1
rs662799 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 33
rs6568431 0.790 0.320 6 106140931 intron variant A/C snv 0.61 7
rs2245214 0.827 0.240 6 106214866 intron variant C/G snv 0.42 6
rs121908117 0.708 0.440 3 48466707 missense variant G/A snv 17
rs6051702 0.882 0.120 20 3271278 intron variant A/C snv 0.19 3
rs1375515 1.000 0.040 3 54442613 intron variant C/T snv 0.58 1
rs1868505 1.000 0.040 3 54387228 intron variant T/C snv 0.86 1
rs1934951 0.925 0.160 10 95038791 intron variant C/T snv 0.24 4
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1057520529 0.851 0.320 X 49251440 missense variant C/T snv 5
rs1057516674 0.882 0.160 17 42901026 frameshift variant GT/- del 5
rs1050828 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 15
rs1050829 0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 5