Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 102
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv 82
rs751377893
F5
0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 65
rs6280 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 57
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs964184 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 47
rs1800587 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 43
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs5742909 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 40
rs2569190 0.620 0.560 5 140633331 intron variant A/G snv 0.57 39
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs662799 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 33
rs333 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 23
rs35829419 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 23
rs4696480 0.716 0.400 4 153685974 intron variant T/A snv 0.45 19
rs2071746 0.708 0.320 22 35380679 intron variant A/T snv 0.49 18
rs887829 0.763 0.280 2 233759924 intron variant C/T snv 0.36 18