SDHB, succinate dehydrogenase complex iron sulfur subunit B, 6390
N. diseases: 316; N. variants: 130
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 1 | 17028599 | splice donor variant | C/G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2006 | 2014 | |||||||
|
0.882 | 0.080 | 1 | 17028680 | stop gained | G/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2006 | 2017 | |||||||
|
0.882 | 0.080 | 1 | 17033059 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2006 | 2016 | ||||||||
|
0.882 | 0.080 | 1 | 17033058 | splice donor variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2006 | 2012 | ||||||||
|
0.925 | 0.080 | 1 | 17028712 | frameshift variant | T/CC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.080 | 1 | 17028737 | splice acceptor variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 2007 | 2016 | ||||||||
|
0.882 | 0.080 | 1 | 17024076 | splice acceptor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2007 | 2014 | ||||||||
|
0.827 | 0.200 | 1 | 17023975 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.925 | 0.080 | 1 | 17044889 | splice acceptor variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.925 | 0.080 | 1 | 17022724 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||||
|
0.925 | 0.080 | 1 | 17033147 | splice acceptor variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.882 | 0.080 | 1 | 17028691 | frameshift variant | AG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 1 | 17033075 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.160 | 1 | 17044818 | missense variant | T/A | snv | 4.4E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2012 | 2017 | ||||||
|
0.925 | 0.080 | 1 | 17022687 | frameshift variant | -/CGCCTCTGTGAAG | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 1 | 17027798 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 1 | 17044849 | frameshift variant | G/-;GGG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 |