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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.240 | 3 | 10149796 | missense variant | T/A;C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 2 | 2002 | 2014 | ||||||||
|
0.851 | 0.320 | 3 | 10142113 | missense variant | T/A;C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 2 | 2002 | 2014 | ||||||||
|
0.827 | 0.280 | 3 | 10149822 | missense variant | C/G;T | snv | 8.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 2 | 1995 | 2014 | |||||||
|
0.882 | 0.280 | 3 | 10149804 | stop gained | C/G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.280 | 3 | 10149871 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 1999 | 2003 | ||||||||
|
0.882 | 0.240 | 3 | 10142088 | missense variant | C/T | snv | 2.0E-04 | 3.8E-04 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.807 | 0.240 | 3 | 10146566 | missense variant | C/A | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.790 | 0.280 | 3 | 10142086 | missense variant | G/A;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.320 | 3 | 10142139 | missense variant | T/C | snv | 1.3E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.776 | 0.320 | 3 | 10149885 | missense variant | C/G | snv | 2.0E-05 | 4.2E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||
|
0.882 | 0.120 | 3 | 10141965 | missense variant | C/A;T | snv | 6.5E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.120 | 3 | 10141653 | 5 prime UTR variant | G/A;C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.240 | 3 | 10142079 | missense variant | A/C;G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.240 | 3 | 10149964 | stop lost | G/T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |