Gene: HBB ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs35256489
rs35256489
HBB
6 0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs35424040
rs35424040
HBB
6 0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs35497102
rs35497102
HBB
3 0.882 0.080 11 5226996 frameshift variant TT/- del 0.700 0
dbSNP: rs35532010
rs35532010
HBB
4 0.882 0.080 11 5226937 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs35699606
rs35699606
HBB
3 0.882 0.080 11 5226994 frameshift variant -/C delins 2.5E-04 6.3E-05 0.700 0
dbSNP: rs35724775
rs35724775
HBB
10 0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04 0.700 0
dbSNP: rs63749819
rs63749819
HBB
3 0.882 0.080 11 5227002 frameshift variant T/- del 1.6E-05 2.1E-05 0.700 0
dbSNP: rs63750532
rs63750532
HBB
3 0.925 0.080 11 5226780 frameshift variant A/- delins 0.700 0
dbSNP: rs63750783
rs63750783
HBB
3 0.882 0.080 11 5226975 stop gained C/T snv 8.8E-05 7.0E-06 0.700 0
dbSNP: rs80356821
rs80356821
HBB
3 0.882 0.080 11 5226763 frameshift variant AGAA/- delins 0.700 0
dbSNP: rs33949486
rs33949486
HBB
1 1.000 0.080 11 5225632 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 1998 1998
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.850 1.000 12 1957 2018