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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.800 | 1.000 | 24 | 2003 | 2017 | |||||||
|
0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 10 | 2006 | 2013 | |||||||
|
0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 16 | 2003 | 2016 | |||||||
|
0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 12 | 2005 | 2015 | |||||||
|
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 | ||||||||
|
0.827 | 0.280 | 1 | 17054017 | start lost | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 1 | 17033078 | stop gained | G/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 10 | 2001 | 2014 | |||||||
|
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 | |||||||
|
0.851 | 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 | ||||||
|
0.851 | 0.080 | 1 | 17044882 | stop gained | G/A;C | snv | 8.0E-06; 4.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 1 | 17022648 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.800 | 1.000 | 19 | 2001 | 2017 | ||||||
|
0.882 | 0.080 | 1 | 17024025 | missense variant | G/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.800 | 1.000 | 13 | 2001 | 2017 | |||||||
|
0.882 | 0.080 | 1 | 17028605 | missense variant | C/A | snv | 1.2E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 11 | 2006 | 2015 | ||||||
|
0.882 | 0.080 | 1 | 17022685 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 10 | 2003 | 2015 | ||||||
|
0.882 | 0.080 | 1 | 17044825 | stop gained | G/A;C | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 10 | 2003 | 2017 | |||||||
|
0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 10 | 1992 | 2013 | ||||||||
|
0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 9 | 2003 | 2013 | ||||||||
|
0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 2006 | 2012 | ||||||||
|
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 | 17024024 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2005 | 2013 | ||||||||
|
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 | 17024076 | splice acceptor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2007 | 2014 | ||||||||
|
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 | ||||||||
|
0.882 | 0.080 | 1 | 17033060 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 1990 | 2013 |