HBB, hemoglobin subunit beta, 3043
N. diseases: 272; N. variants: 188
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.080 | 11 | 5226943 | stop gained | C/A;G;T | snv | 2.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.810 | 1.000 | 17 | 1980 | 2017 | |||||||
|
0.882 | 0.080 | 11 | 5225662 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 13 | 1981 | 2013 | |||||||
|
0.752 | 0.080 | 11 | 5226774 | stop gained | G/A;C;T | snv | 3.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 11 | 1981 | 2015 | |||||||
|
0.752 | 0.080 | 11 | 5226970 | stop gained | T/A;C;G | snv | 5.6E-05; 3.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 10 | 1979 | 2015 | |||||||
|
0.925 | 0.080 | 11 | 5227172 | 5 prime UTR variant | G/A | snv | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 22 | 1989 | 2015 | |||||||
|
0.851 | 0.080 | 11 | 5227020 | start lost | A/C;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 21 | 1990 | 2017 | ||||||||
|
0.851 | 0.080 | 11 | 5225678 | stop gained | C/A;G;T | snv | 7.0E-04; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 21 | 1968 | 2017 | |||||||
|
0.752 | 0.080 | 11 | 5226925 | splice region variant | C/A;G;T | snv | 4.0E-06; 5.9E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 18 | 1983 | 2013 | |||||||
|
0.882 | 0.080 | 11 | 5226930 | missense variant | C/G;T | snv | 1.0E-04; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 18 | 1989 | 2016 | |||||||
|
0.925 | 0.080 | 11 | 5226641 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 15 | 1989 | 2015 | ||||||||
|
0.752 | 0.080 | 11 | 5227159 | 5 prime UTR variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 15 | 1984 | 2017 | ||||||||
|
0.763 | 0.080 | 11 | 5226924 | splice region variant | A/G;T | snv | 1.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 14 | 1982 | 2015 | |||||||
|
0.882 | 0.080 | 11 | 5226763 | frameshift variant | AGAA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 14 | 1983 | 2015 | ||||||||
|
0.807 | 0.280 | 11 | 5227099 | 5 prime UTR variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 1982 | 2014 | ||||||||
|
0.925 | 0.080 | 11 | 5225718 | frameshift variant | -/C | delins | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 1987 | 2013 | |||||||
|
0.763 | 0.080 | 11 | 5226576 | splice donor variant | C/A;G;T | snv | 4.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 11 | 1982 | 2015 | |||||||
|
1.000 | 0.080 | 11 | 5226802 | splice region variant | A/C;G;T | snv | 8.0E-06; 1.6E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 11 | 1989 | 2015 | |||||||
|
0.724 | 0.280 | 11 | 5227100 | 5 prime UTR variant | T/C | snv | 8.9E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 11 | 1984 | 2015 | |||||||
|
0.925 | 0.080 | 11 | 5225728 | splice acceptor variant | T/C;G | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 10 | 1984 | 2013 | |||||||
|
0.763 | 0.080 | 11 | 5226929 | splice donor variant | C/A;T | snv | 7.2E-05; 9.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 10 | 1983 | 2015 | |||||||
|
0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 9 | 1984 | 2012 | |||||||
|
0.827 | 0.080 | 11 | 5226940 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 9 | 1982 | 2014 | |||||||
|
0.925 | 0.080 | 11 | 5226662 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 8 | 1988 | 2015 | ||||||||
|
0.752 | 0.080 | 11 | 5227158 | 5 prime UTR variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 8 | 1988 | 2014 | ||||||||
|
0.925 | 0.080 | 11 | 5226674 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 8 | 1984 | 2014 |