Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
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
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs1800471 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 48
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs2292239 0.742 0.480 12 56088396 intron variant T/G snv 0.65 13
rs6921438 0.776 0.360 6 43957870 intergenic variant G/A;C snv 10
rs10738760 0.807 0.320 9 2691186 regulatory region variant A/G snv 0.56 7
rs3825932 0.827 0.360 15 78943104 intron variant T/C snv 0.50 6
rs184340784 0.925 0.160 1 4529823 intergenic variant C/T snv 6.1E-04 2
rs1902491 0.925 0.240 4 155134181 intergenic variant C/A;T snv 2
rs200295620 0.925 0.160 3 168172398 intergenic variant T/-;TT delins 5.7E-03 2
rs4865047 0.925 0.240 4 55955640 intron variant C/T snv 0.12 2
rs3917779 0.925 0.280 1 169601610 intron variant G/A snv 0.22 2
rs11201335 1.000 0.160 10 85018443 intergenic variant C/G;T snv 1
rs115523882 1.000 0.160 3 168158417 intergenic variant A/G snv 9.5E-03 1
rs116396065 1.000 0.160 8 121117030 intron variant T/A snv 8.4E-02 1
rs137949823 1.000 0.160 5 43743007 intergenic variant G/A;T snv 1
rs138683663 1.000 0.160 18 59195550 intergenic variant C/T snv 4.2E-03 1
rs149201869 1.000 0.160 2 215487796 downstream gene variant T/A snv 2.4E-03 1
rs2064196 1.000 0.160 6 144266047 intergenic variant C/G;T snv 1
rs72740408 1.000 0.160 1 191136701 intron variant G/A snv 0.17 1