Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs34598529
HBB
0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 14
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 12
rs11886868
BCL11A
0.752 0.280 2 60493111 intron variant C/T snv 0.65 12
rs33941377
HBB
0.752 0.080 11 5227158 5 prime UTR variant G/A;C;T snv 12
rs33944208
HBB
0.752 0.080 11 5227159 5 prime UTR variant G/A;C;T snv 12
rs11549407
HBB
0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04 11
rs33915217
HBB
0.752 0.080 11 5226925 splice region variant C/A;G;T snv 4.0E-06; 5.9E-04; 4.0E-06 11
rs33986703
HBB
0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-05 11
rs35004220
HBB
0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-05 11
rs887829
UGT1A8 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A4 ; UGT1A3 ; UGT1A10 ; UGT1A1 ; UGT1A9
0.763 0.280 2 233759924 intron variant C/T snv 0.36 18
rs33945777
HBB
0.763 0.080 11 5226576 splice donor variant C/A;G;T snv 4.0E-05 10
rs33971440
HBB
0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 10
rs34690599
HBB
0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05 10
rs35724775
HBB
0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04 10
rs1050828
G6PD
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 15
rs4671393
BCL11A
0.790 0.400 2 60493816 intron variant A/C;G snv 11
rs1984112
CD36
0.807 0.280 7 80613604 intron variant A/G snv 0.33 8
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 8
rs33931746
HBB
0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv 6
rs1427407
BCL11A
0.827 0.120 2 60490908 intron variant T/C;G snv 6
rs35256489
HBB
0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 6
rs35424040
HBB
0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05 6
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20 13
rs3783613
VCAM1
0.851 0.200 1 100731231 missense variant G/A;C snv 4.0E-06; 9.9E-03 6
rs33941849
HBB
0.851 0.080 11 5227020 start lost A/C;G;T snv 4