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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 11 | 5225698 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 4 | 1994 | 2002 | ||||||||
|
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 | 14 | 1986 | 2016 | ||||||||
|
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 | 11 | 1984 | 2017 | ||||||||
|
0.925 | 0.080 | 11 | 5226778 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 11 | 1986 | 2011 | ||||||||
|
1.000 | 0.080 | 11 | 5227050 | 5 prime UTR variant | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 9 | 1992 | 2010 | |||||||
|
0.925 | 0.080 | 11 | 5226971 | frameshift variant | G/- | del |
|
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 | 8 | 1984 | 2014 | |||||||
|
1.000 | 0.080 | 11 | 5226597 | missense variant | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 7 | 1972 | 2016 | |||||||
|
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 | 0.700 | 1.000 | 7 | 1990 | 2011 | |||||||
|
0.882 | 0.080 | 11 | 5226937 | frameshift variant | G/-;GG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 7 | 1991 | 2014 | ||||||||
|
0.882 | 0.080 | 11 | 5226762 | stop gained | C/A;G;T | snv | 2.8E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 1988 | 2014 | |||||||
|
11 | 5225668 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 1969 | 2016 | ||||||||||
|
0.925 | 0.080 | 11 | 5225485 | 3 prime UTR variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 1991 | 2010 | ||||||||
|
11 | 5227021 | start lost | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 1991 | 2011 | ||||||||||
|
0.925 | 0.080 | 11 | 5226814 | non coding transcript exon variant | A/C;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 1986 | 2014 | ||||||||
|
1.000 | 11 | 5225606 | missense variant | A/C;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1975 | 1997 | |||||||||
|
1.000 | 0.080 | 11 | 5226986 | frameshift variant | A/- | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1991 | 2017 | |||||||
|
1.000 | 0.080 | 11 | 5226976 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1988 | 2014 | ||||||||
|
11 | 5226745 | frameshift variant | -/AGAT | delins | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1994 | 2013 | |||||||||
|
11 | 5226801 | splice acceptor variant | T/C;G | snv | 1.2E-05; 8.0E-06; 1.6E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 2003 | 2017 | |||||||||
|
0.925 | 0.080 | 11 | 5226780 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 1991 | 1997 | ||||||||
|
11 | 5226657 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
11 | 5226941 | missense variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 11 | 5226615 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
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 | 0.700 | 0 |