Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs34598529
HBB
0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 11
rs35004220
HBB
0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-05 11
rs11549407
HBB
0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04 10
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
rs33986703
HBB
0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-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
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 7
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 7
rs35256489
HBB
0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 5
rs35424040
HBB
0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05 5
rs1564875331
HBB
0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins 4
rs33913413
HBB
0.851 0.080 11 5225729 splice region variant G/A;C;T snv 1.2E-05; 4.0E-06 4
rs33922842
HBB
0.882 0.080 11 5226762 stop gained C/A;G;T snv 2.8E-04; 4.0E-06 4
rs33941849
HBB
0.851 0.080 11 5227020 start lost A/C;G;T snv 4
rs33946267
HBB
0.851 0.080 11 5225678 stop gained C/A;G;T snv 7.0E-04; 1.2E-05 4
rs33978907
HBB
0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv 4
rs34451549
HBB
0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05 4
rs35532010
HBB
0.882 0.080 11 5226937 frameshift variant G/-;GG delins 4
rs33930165
HBB
0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 3
rs33931746
HBB
0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv 3