SDHD, succinate dehydrogenase complex subunit D, 6392
N. diseases: 348; N. variants: 69
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.240 | 11 | 112087916 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 9 | 2000 | 2015 | |||||||
|
0.882 | 0.200 | 11 | 112087868 | stop gained | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 2001 | 2012 | ||||||||
|
0.882 | 0.200 | 11 | 112087933 | stop gained | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 6 | 2002 | 2010 | ||||||||
|
0.851 | 0.240 | 11 | 112094832 | stop gained | T/A;C | snv | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 2001 | 2012 | |||||||
|
0.851 | 0.200 | 11 | 112086940 | stop gained | C/A;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2002 | 2008 | |||||||
|
0.851 | 0.240 | 11 | 112087899 | stop gained | C/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 11 | 112089011 | stop gained | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 11 | 112087959 | stop gained | C/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 11 | 112088939 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 10 | 2000 | 2015 | ||||||
|
0.827 | 0.240 | 11 | 112094831 | missense variant | A/G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 9 | 2001 | 2016 | ||||||||
|
0.851 | 0.200 | 11 | 112089002 | missense variant | A/G;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 5 | 2000 | 2012 | |||||||
|
0.807 | 0.240 | 11 | 112088971 | missense variant | G/T | snv | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||||
|
0.882 | 0.200 | 11 | 112094810 | missense variant | T/G | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 11 | 112089012 | splice donor variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.200 | 11 | 112088884 | frameshift variant | TC/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 2001 | 2013 | ||||||||
|
0.882 | 0.200 | 11 | 112087896 | frameshift variant | TC/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2001 | 2009 | ||||||||
|
0.851 | 0.240 | 11 | 112087861 | frameshift variant | G/- | del |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.200 | 11 | 112086920 | frameshift variant | TG/- | del |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 11 | 112094824 | frameshift variant | GACT/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 11 | 112086916 | frameshift variant | -/C | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 11 | 112088869 | frameshift variant | G/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 11 | 112088938 | frameshift variant | C/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 11 | 112088866 | splice acceptor variant | G/T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 6 | 2002 | 2010 | |||||||
|
0.882 | 0.200 | 11 | 112087856 | splice acceptor variant | GC/TT | mnv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.790 | 0.280 | 11 | 112086910 | start lost | G/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 11 | 2001 | 2012 |