Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs34690599
HBB
0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05 10
rs34451549
HBB
0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05 4
rs35328027
HBB
1.000 0.080 11 5225872 intron variant A/C;G snv 1
rs35703285
HBB
1.000 0.080 11 5225740 intron variant A/C snv 1
rs11549407
HBB
0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04 10
rs33986703
HBB
0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-05 10
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 7
rs33922842
HBB
0.882 0.080 11 5226762 stop gained C/A;G;T snv 2.8E-04; 4.0E-06 4
rs33946267
HBB
0.851 0.080 11 5225678 stop gained C/A;G;T snv 7.0E-04; 1.2E-05 4
rs33974936
HBB
0.925 0.080 11 5226778 stop gained C/A;T snv 3
rs63750783
HBB
0.882 0.080 11 5226975 stop gained C/T snv 8.8E-05 7.0E-06 3
rs34716011
HBB
1.000 0.080 11 5226974 stop gained C/T snv 7.0E-06 1
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 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
rs33930165
HBB
0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 3
rs33960103
HBB
0.882 0.080 11 5226930 missense variant C/G;T snv 1.0E-04; 8.0E-06 3
rs33972047
HBB
0.851 0.080 11 5226963 missense variant T/C snv 3
rs33922873
HBB
0.925 0.080 11 5226702 missense variant G/A;T snv 2
rs33925391
HBB
0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06 2
rs33969677
HBB
0.925 0.080 11 5225714 missense variant C/A;G;T snv 2
rs36015961
HBB
0.925 0.080 11 5225698 missense variant A/G snv 2
rs193922552
HBB
1.000 0.080 11 5227002 missense variant TC/AT mnv 1
rs35485099
HBB
1.000 0.080 11 5225695 missense variant G/A;T snv 1
rs35684407
HBB
1.000 0.080 11 5226931 missense variant T/C;G snv 1