VHL, von Hippel-Lindau tumor suppressor, 7428
N. diseases: 372; N. variants: 215
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 3 | 10142124 | missense variant | G/A;C;T | snv | 4.5E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1996 | 2007 | |||||||
|
0.925 | 0.160 | 3 | 10149813 | stop gained | C/G;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1996 | 2016 | ||||||||
|
0.925 | 0.160 | 3 | 10149856 | missense variant | T/A;C;G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2007 | 2016 | ||||||||
|
0.925 | 0.160 | 3 | 10149798 | frameshift variant | A/-;AA | delins |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1976 | 2004 | ||||||||
|
0.925 | 0.160 | 3 | 10146637 | splice donor variant | G/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1996 | 2011 | ||||||||
|
0.925 | 0.160 | 3 | 10146530 | missense variant | C/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
1.000 | 0.040 | 3 | 10149897 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 2003 | 2012 | |||||||
|
0.851 | 0.280 | 3 | 10149871 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 1996 | 2001 | |||||||
|
0.925 | 0.160 | 3 | 10146543 | missense variant | A/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2003 | 2013 | ||||||||
|
0.925 | 0.160 | 3 | 10149795 | missense variant | C/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2000 | 2004 | ||||||||
|
0.925 | 0.160 | 3 | 10149847 | missense variant | A/G;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2004 | 2013 | ||||||||
|
0.925 | 0.160 | 3 | 10149824 | frameshift variant | -/TTGTCCGT | ins | 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 1993 | 1995 | |||||||
|
0.925 | 0.160 | 3 | 10146625 | missense variant | T/C;G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 1999 | 2012 | ||||||||
|
0.925 | 0.160 | 3 | 10146526 | missense variant | T/C;G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.925 | 0.160 | 3 | 10146588 | frameshift variant | TC/- | delins |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10142073 | frameshift variant | TT/- | del |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10142023 | frameshift variant | GGCCCGTGCTGCGC/- | delins |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10146593 | frameshift variant | -/A | delins |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.280 | 3 | 10142166 | missense variant | C/G;T | snv | 4.5E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 3 | 10142080 | missense variant | A/C;G;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.320 | 3 | 10142113 | missense variant | T/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10142184 | stop gained | C/A;T | snv | 4.6E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 3 | 10149785 | splice acceptor variant | A/G;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10146621 | frameshift variant | A/- | delins |
|
Hemic and Lymphatic Diseases | 0.700 | 0 |