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
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
rs33922842
HBB
0.882 0.080 11 5226762 stop gained C/A;G;T snv 2.8E-04; 4.0E-06 4
rs35532010
HBB
0.882 0.080 11 5226937 frameshift variant G/-;GG delins 4
rs33974936
HBB
0.925 0.080 11 5226778 stop gained C/A;T snv 3
rs33985472
HBB
0.925 0.080 11 5225485 3 prime UTR variant T/C snv 3
rs35456885
HBB
0.925 0.080 11 5226814 non coding transcript exon variant A/C;G;T snv 3
rs35662066
HBB
0.925 0.080 11 5226971 frameshift variant G/- del 3
rs63750532
HBB
0.925 0.080 11 5226780 frameshift variant A/- delins 3
rs33924775
HBB
0.925 0.040 11 5226615 missense variant G/A;C;T snv 2
rs33925391
HBB
0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06 2
rs33929459
HBB
1.000 11 5226952 missense variant C/A;G;T snv 4.0E-06 2
rs33933298
HBB
1.000 0.080 11 5226597 missense variant C/A;T snv 4.0E-06 2
rs33949869
HBB
1.000 11 5225606 missense variant A/C;G;T snv 2
rs34704828
HBB
1.000 0.080 11 5227050 5 prime UTR variant C/A;T snv 4.0E-06 2
rs34809925
HBB
1.000 0.080 11 5225592 3 prime UTR variant G/A;C;T snv 8.0E-06; 4.0E-06 2
rs34856846
HBB
1.000 0.080 11 5226986 frameshift variant A/- delins 4.0E-06 2
rs35383398
HBB
1.000 0.080 11 5226976 frameshift variant -/C delins 2
rs36015961
HBB
0.925 0.080 11 5225698 missense variant A/G snv 2
rs41417446
HBB
1.000 0.080 11 5226763 inframe deletion AAA/- del 2
rs281864581
HBB
11 5226941 missense variant C/A;G snv 1
rs281865475
HBB
11 5226657 frameshift variant G/- delins 1