Gene: HBB ×
Source: CURATED ×
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: rs34889882
rs34889882
HBB
3 0.882 0.080 11 5227004 frameshift variant AG/- del 7.0E-06 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: rs63749819
rs63749819
HBB
3 0.882 0.080 11 5227002 frameshift variant T/- del 1.6E-05 2.1E-05 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: rs33914668
rs33914668
HBB
2 0.925 0.080 11 5225728 splice acceptor variant T/C;G snv 8.0E-06 0.700 0
dbSNP: rs34483965
rs34483965
HBB
2 0.925 0.080 11 5225733 splice region variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs63750532
rs63750532
HBB
3 0.925 0.080 11 5226780 frameshift variant A/- delins 0.700 0
dbSNP: rs111645889
rs111645889
HBB
1 1.000 0.080 11 5225653 missense variant G/A;T snv 2.0E-05 0.700 0