Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10173538 2 159712765 intron variant C/G;T snv 5
rs10409243 19 10222312 3 prime UTR variant C/A;G;T snv 6
rs112505971 10 27068541 intron variant A/C;G snv 13
rs11428934 19 48640988 intron variant -/G ins 4
rs1144700 6 16744456 intron variant C/G;T snv 5
rs11734460 4 711285 intron variant C/A;T snv 4
rs11741826 5 69294573 intron variant G/A;C snv 3
rs12593998 15 50766432 upstream gene variant A/C;G snv 2
rs12600856 17 40007042 intergenic variant T/C;G snv 5
rs139707092 2 168850753 intron variant TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT delins 5
rs14408 11 308314 missense variant T/C;G snv 0.53 4
rs145013566 2 218297998 intron variant -/C ins 5
rs146318841 6 135328483 intron variant TGCCATAAACCATAGCCATAG/-;TGCCATAAACCATAGCCATAGTGCCATAAACCATAGCCATAG delins 4
rs147694761 18 23571654 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins 5
rs192022 11 108378047 intron variant C/G;T snv 5
rs1968252 19 7782850 upstream gene variant G/A;T snv 5
rs201950044 1 161639782 intergenic variant G/T snv 5
rs2208568 1 235926855 intergenic variant T/A;C;G snv 5
rs2979489 8 30423317 intron variant G/A;C snv 6
rs3123543 1 212617344 intron variant T/A;C snv 13
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 61
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 19
rs34061361 13 28044450 intron variant AAA/-;A;AA;AAAA delins 5
rs34208856 6 135099930 intron variant TT/-;T;TTT;TTTTTTTTT delins 6
rs34293785 1 65671509 intergenic variant T/C snv 4