Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs33985472
HBB
0.925 0.080 11 5225485 3 prime UTR variant T/C snv 3
rs63751128
HBB
0.925 0.080 11 5225487 3 prime UTR variant T/C snv 1.4E-05 2
rs63750205
HBB
1.000 0.080 11 5225487 3 prime UTR variant AT/- delins 1
rs33978907
HBB
0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv 4
rs34809925
HBB
1.000 0.080 11 5225592 3 prime UTR variant G/A;C;T snv 8.0E-06; 4.0E-06 2
rs33925391
HBB
0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06 2
rs1554917561
HBB
1.000 0.080 11 5225664 frameshift variant GTGGGGTG/- delins 1
rs33946267
HBB
0.851 0.080 11 5225678 stop gained C/A;G;T snv 7.0E-04; 1.2E-05 4
rs35485099
HBB
1.000 0.080 11 5225695 missense variant G/A;T snv 1
rs36015961
HBB
0.925 0.080 11 5225698 missense variant A/G snv 2
rs35256489
HBB
0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 5
rs33969677
HBB
0.925 0.080 11 5225714 missense variant C/A;G;T snv 2
rs35225141
HBB
0.925 0.080 11 5225718 frameshift variant -/C delins 1.4E-05 2
rs33952266
HBB
0.925 0.080 11 5225727 splice acceptor variant C/A;G;T snv 7.2E-05 2
rs33914668
HBB
0.925 0.080 11 5225728 splice acceptor variant T/C;G snv 8.0E-06 2
rs33913413
HBB
0.851 0.080 11 5225729 splice region variant G/A;C;T snv 1.2E-05; 4.0E-06 4
rs34483965
HBB
0.925 0.080 11 5225733 splice region variant G/A;C;T snv 4.0E-06; 4.0E-06 2
rs35703285
HBB
1.000 0.080 11 5225740 intron variant A/C snv 1
rs34690599
HBB
0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05 10
rs35328027
HBB
1.000 0.080 11 5225872 intron variant A/C;G snv 1
rs34451549
HBB
0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05 4
rs1564874813
HBB
1.000 0.080 11 5226575 splice donor variant A/- del 1
rs33945777
HBB
0.763 0.080 11 5226576 splice donor variant C/A;G;T snv 4.0E-05 10
rs34937014
HBB
1.000 0.080 11 5226604 frameshift variant -/T delins 1
rs193922555
HBB
0.925 0.080 11 5226641 frameshift variant C/- delins 2