Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs571497 19 7762944 upstream gene variant G/A snv 0.20 3
rs6475611 9 22151140 intergenic variant G/A snv 0.21 6
rs9880192 1.000 0.040 3 128578726 upstream gene variant G/A;C snv 0.31 5
rs10098310 8 129601368 intron variant G/A;T snv 3
rs113760175 6 22343363 intron variant G/A;T snv 3
rs6782228 3 128604581 intergenic variant G/C snv 0.28 7
rs6993442 8 129683891 upstream gene variant G/C snv 0.17 5
rs4807440 19 1026478 upstream gene variant G/T snv 0.65 3
rs4837892 9 121826025 intron variant G/T snv 0.36 13
rs9917425 20 16755400 intron variant G/T snv 0.16 13
rs13063578 3 47046347 intron variant T/A snv 0.46 5
rs3123543 1 212617344 intron variant T/A;C snv 13
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs10980800 9 111153625 intron variant T/C snv 0.21 3
rs2038700 14 24992783 intron variant T/C snv 0.53 7
rs2814778 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 24
rs1157008 9 88920798 regulatory region variant T/C;G snv 3
rs76428106 0.851 0.040 13 28029870 intron variant T/C;G snv 10
rs9260620 6 29955314 upstream gene variant T/G snv 0.24 7