Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs543023132 1.000 0.080 6 155652652 downstream gene variant TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTT delins 0.12 1
rs35497102
HBB
0.882 0.080 11 5226996 frameshift variant TT/- del 3
rs8175347
UGT1A9 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A7 ; UGT1A4
0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 16
rs7203560
NPRL3
1.000 0.080 16 134391 intron variant T/G snv 2.0E-02 7
rs1427407
BCL11A
0.827 0.120 2 60490908 intron variant T/C;G snv 6
rs33931746
HBB
0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv 6
rs33914668
HBB
0.925 0.080 11 5225728 splice acceptor variant T/C;G snv 8.0E-06 2
rs28384513
HBS1L
1.000 0.080 6 135055071 non coding transcript exon variant T/C;G snv 1
rs751377893
F5
0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 65
rs34598529
HBB
0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 14
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20 13
rs10877969
AVPR1A
0.882 0.120 12 63153459 intron variant T/C snv 0.26 6
rs6729815
BCL11A
1.000 0.080 2 60496537 intron variant T/C snv 0.49 4
rs1669539 1.000 0.080 2 105998818 intergenic variant T/C snv 7.1E-02 2
rs1896295
BCL11A
1.000 0.080 2 60496951 intron variant T/C snv 0.81 2
rs4404254
ICOS
0.925 0.160 2 203960563 3 prime UTR variant T/C snv 0.29 2
rs146893001
PTPN3
1.000 0.080 9 109419337 intron variant T/C snv 3.9E-03 1
rs3115229 1.000 0.080 4 122088578 upstream gene variant T/C snv 9.9E-03 1
rs60684937
MAP2K6
1.000 0.080 17 69422989 intron variant T/C snv 0.11 1
rs9324918
NR3C1
1.000 0.080 5 143387595 intron variant T/C snv 0.15 1
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs33986703
HBB
0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-05 11
rs9494145 0.925 0.080 6 135111414 intergenic variant T/A;C snv 11
rs743811 0.882 0.160 22 35396981 upstream gene variant T/A;C snv 4