Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs546810441 7 100486348 intron variant G/A snv 4.2E-03 2
rs554093579 7 100537063 upstream gene variant A/C snv 5.5E-03 1
rs769651870 7 100635310 intron variant T/A;C snv 1.2E-03 1
rs7385804 0.851 0.120 7 100638347 intron variant C/A snv 0.65 14
rs2075672 7 100642673 intron variant A/G snv 0.65 8
rs10953299 7 100645788 intron variant T/C snv 0.21 1
rs62482253 7 100677821 splice region variant G/A snv 2.6E-03 2.8E-03 2
rs149823406 7 100716851 upstream gene variant C/T snv 4.6E-03 2
rs551238
EPO
0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62 5
rs59901009 11 10156890 intron variant T/C snv 0.25 2
rs568645819 11 10228118 intron variant TTGT/- delins 2
rs13114738 0.851 0.120 4 102363708 intron variant C/A;T snv 16
rs112682076 1 10297748 intron variant G/C snv 5.8E-03 2
rs629301 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 22
rs6533530 0.851 0.120 4 110810780 intergenic variant T/C snv 0.47 16
rs62160676 2 111410354 intron variant T/C;G snv 5
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs138308793 2 111493181 intron variant G/A snv 0.11 1
rs11065987 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 17
rs4506565 0.790 0.280 10 112996282 intron variant A/G;T snv 22
rs7563124 2 113207621 3 prime UTR variant T/A snv 0.27 1
rs1905376 8 115521531 intron variant A/G snv 0.55 2
rs964184 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 47
rs651821 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 17
rs7115242 0.851 0.120 11 117037567 intron variant A/G;T snv 16