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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 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 | |||||||||||
|
0.925 | 0.160 | 3 | 10142103 | frameshift variant | C/-;CC | delins |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10146543 | frameshift variant | AC/- | delins |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 3 | 10146587 | synonymous variant | A/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10149863 | frameshift variant | CGTC/- | del |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
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 | 10149824 | frameshift variant | -/TTGTCCGT | ins | 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 1993 | 1995 | |||||||
|
0.882 | 0.280 | 3 | 10149804 | stop gained | C/G;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 17 | 1994 | 2014 | ||||||||
|
0.925 | 0.160 | 3 | 10146608 | frameshift variant | GC/- | del |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 15 | 1994 | 2014 | ||||||||
|
0.827 | 0.280 | 3 | 10149823 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 14 | 1994 | 2012 | |||||||
|
0.827 | 0.280 | 3 | 10149822 | missense variant | C/G;T | snv | 8.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 1994 | 2015 | |||||||
|
0.925 | 0.160 | 3 | 10146535 | missense variant | A/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1994 | 2015 | ||||||||
|
0.776 | 0.320 | 3 | 10149885 | missense variant | C/G | snv | 2.0E-05 | 4.2E-05 |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 10 | 1994 | 2013 | ||||||
|
0.925 | 0.160 | 3 | 10142187 | missense variant | G/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 9 | 1994 | 2016 | ||||||||
|
0.925 | 0.160 | 3 | 10142109 | missense variant | T/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 10 | 1995 | 2016 | ||||||||
|
0.925 | 0.160 | 3 | 10142178 | missense variant | A/G;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 10 | 1995 | 2016 |