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: rs33978907
rs33978907
HBB
4 0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv 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
dbSNP: rs33946267
rs33946267
HBB
4 0.851 0.080 11 5225678 stop gained C/A;G;T snv 7.0E-04; 1.2E-05 0.700 0
dbSNP: rs35256489
rs35256489
HBB
5 0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 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: rs34690599
rs34690599
HBB
10 0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05 0.700 0
dbSNP: rs34451549
rs34451549
HBB
4 0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05 0.700 0
dbSNP: rs33945777
rs33945777
HBB
10 0.763 0.080 11 5226576 splice donor variant C/A;G;T snv 4.0E-05 0.700 0
dbSNP: rs33947415
rs33947415
HBB
1 0.882 0.120 11 5226684 missense variant C/G;T snv 9.4E-04 0.700 0
dbSNP: rs33922842
rs33922842
HBB
4 0.882 0.080 11 5226762 stop gained C/A;G;T snv 2.8E-04; 4.0E-06 0.700 0
dbSNP: rs80356821
rs80356821
HBB
3 0.882 0.080 11 5226763 frameshift variant AGAA/- delins 0.700 0
dbSNP: rs11549407
rs11549407
HBB
10 0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04 0.700 0
dbSNP: rs63750532
rs63750532
HBB
3 0.925 0.080 11 5226780 frameshift variant A/- delins 0.700 0
dbSNP: rs35004220
rs35004220
HBB
11 0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-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: rs33915217
rs33915217
HBB
11 0.752 0.080 11 5226925 splice region variant C/A;G;T snv 4.0E-06; 5.9E-04; 4.0E-06 0.700 0
dbSNP: rs33971440
rs33971440
HBB
10 0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 0.700 0
dbSNP: rs33960103
rs33960103
HBB
3 0.882 0.080 11 5226930 missense variant C/G;T snv 1.0E-04; 8.0E-06 0.700 0
dbSNP: rs35532010
rs35532010
HBB
4 0.882 0.080 11 5226937 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs35424040
rs35424040
HBB
5 0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs33950507
rs33950507
HBB
7 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 0
dbSNP: rs33951465
rs33951465
HBB
3 0.882 0.080 11 5226947 splice region variant A/C;T snv 4.0E-06 0.700 0
dbSNP: rs33986703
rs33986703
HBB
10 0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-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