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: rs35699606
rs35699606
HBB
3 0.882 0.080 11 5226994 frameshift variant -/C delins 2.5E-04 6.3E-05 0.700 0
dbSNP: rs35497102
rs35497102
HBB
3 0.882 0.080 11 5226996 frameshift variant TT/- del 0.700 0
dbSNP: rs334
rs334
HBB
26 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.850 1.000 7 1957 2018
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: rs33930165
rs33930165
HBB
4 0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 0.700 0
dbSNP: rs34889882
rs34889882
HBB
3 0.882 0.080 11 5227004 frameshift variant AG/- del 7.0E-06 0.700 0
dbSNP: rs33941849
rs33941849
HBB
4 0.851 0.080 11 5227020 start lost A/C;G;T snv 0.700 0
dbSNP: rs33931746
rs33931746
HBB
3 0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv 0.700 0
dbSNP: rs34598529
rs34598529
HBB
11 0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 0.700 0
dbSNP: rs33941377
rs33941377
HBB
12 0.752 0.080 11 5227158 5 prime UTR variant G/A;C;T snv 0.700 0
dbSNP: rs33944208
rs33944208
HBB
12 0.752 0.080 11 5227159 5 prime UTR variant G/A;C;T snv 0.700 0