Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs35699606
HBB
0.882 0.080 11 5226994 frameshift variant -/C delins 2.5E-04 6.3E-05 3
rs35225141
HBB
0.925 0.080 11 5225718 frameshift variant -/C delins 1.4E-05 2
rs1554918165
HBB
1.000 0.080 11 5226957 frameshift variant -/C delins 1
rs33969853
HBB
0.925 0.080 11 5226674 frameshift variant -/T delins 2
rs34937014
HBB
1.000 0.080 11 5226604 frameshift variant -/T delins 1
rs35894115
HBB
1.000 0.080 11 5226748 frameshift variant -/T delins 1.2E-05 1
rs1564874813
HBB
1.000 0.080 11 5226575 splice donor variant A/- del 1
rs35352549
HBB
1.000 0.080 11 5227062 5 prime UTR variant A/- delins 1
rs63749960
HBB
1.000 0.080 11 5226976 frameshift variant A/- del 1
rs35703285
HBB
1.000 0.080 11 5225740 intron variant A/C snv 1
rs35328027
HBB
1.000 0.080 11 5225872 intron variant A/C;G snv 1
rs33941849
HBB
0.851 0.080 11 5227020 start lost A/C;G;T snv 4
rs35456885
HBB
0.925 0.080 11 5226814 non coding transcript exon variant A/C;G;T snv 3
rs33925391
HBB
0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06 2
rs33980857
HBB
0.827 0.280 11 5227101 5 prime UTR variant A/C;G;T snv 2
rs33956879
HBB
1.000 0.080 11 5226928 splice donor variant A/C;G;T snv 1.6E-05 1
rs34527846
HBB
1.000 0.080 11 5226802 splice region variant A/C;G;T snv 8.0E-06; 1.6E-05; 4.0E-06 1
rs33951465
HBB
0.882 0.080 11 5226947 splice region variant A/C;T snv 4.0E-06 3
rs35256489
HBB
0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 5
rs36015961
HBB
0.925 0.080 11 5225698 missense variant A/G snv 2
rs35724775
HBB
0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04 10
rs33978907
HBB
0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv 4
rs34282684
HBB
0.925 0.080 11 5226688 frameshift variant AC/- delins 2
rs34889882
HBB
0.882 0.080 11 5227004 frameshift variant AG/- del 7.0E-06 3
rs80356821
HBB
0.882 0.080 11 5226763 frameshift variant AGAA/- delins 3