Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11207997 1 62596235 intron variant C/T snv 0.39 6
rs12522383 5 111119568 intron variant G/A snv 0.29 2
rs2074380 4 112432155 missense variant G/A;T snv 8.5E-03; 2.4E-05 2
rs2074381 4 112432293 missense variant A/G snv 8.5E-03 5.5E-03 2
rs9846911 3 187500548 intergenic variant A/G snv 0.47 2
rs138850469 2 181678775 missense variant G/C snv 5.2E-05 4.2E-05 1
rs2073932 9 133440318 intron variant A/G snv 0.57 1
rs33929415
HBB
11 5225612 missense variant G/A;C;T snv 4.0E-06 1
rs35810727 1 206112629 intron variant G/A;T snv 1
rs536297956 13 25530064 missense variant C/T snv 1
rs587783675 11 17387104 missense variant A/G snv 1
rs652600 9 133445896 intron variant G/A snv 0.66 1
rs7375036 3 38727881 intron variant T/C snv 6.4E-03 1
rs750521766 1 201389275 missense variant C/T snv 1.1E-04 3.5E-05 1
rs7712562 5 1295957 upstream gene variant A/G snv 0.88 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205