PALB2, partner and localizer of BRCA2, 79728
N. diseases: 260; N. variants: 410
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 | 0.080 | 16 | 23633265 | intron variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||||||
|
0.925 | 0.080 | 16 | 23613903 | intron variant | T/C | snv | 0.13 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2016 | 2018 | |||||||
|
0.925 | 0.080 | 16 | 23629146 | intron variant | G/A | snv | 0.31 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2008 | 2016 | |||||||
|
0.925 | 0.080 | 16 | 23622102 | intron variant | C/G | snv | 0.13 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2010 | 2018 | |||||||
|
0.925 | 0.080 | 16 | 23618750 | intron variant | C/T | snv | 0.18 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 15 | 2007 | 2016 | |||||||
|
0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.730 | 1.000 | 10 | 2010 | 2016 | ||||||
|
0.925 | 0.200 | 16 | 23637865 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 6 | 2011 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 23603526 | stop gained | G/A;T | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 6 | 2007 | 2015 | ||||||
|
1.000 | 0.080 | 16 | 23603497 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2016 | ||||||||
|
0.925 | 0.080 | 16 | 23629831 | stop gained | G/A | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.720 | 1.000 | 5 | 2007 | 2013 | |||||||
|
0.925 | 0.200 | 16 | 23623003 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.882 | 0.200 | 16 | 23629897 | stop gained | G/A;T | snv | 2.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 3 | 2007 | 2019 | |||||||
|
1.000 | 0.080 | 16 | 23630170 | stop gained | T/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 16 | 23635795 | stop gained | G/A | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2009 | 2015 | |||||||
|
0.827 | 0.400 | 16 | 23635306 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||||
|
1.000 | 0.080 | 16 | 23634913 | stop gained | C/A;T | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||||
|
1.000 | 0.080 | 16 | 23636095 | stop gained | G/A;T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2014 | 2017 | |||||||
|
1.000 | 0.080 | 16 | 23629645 | stop gained | C/A;G;T | snv | 1.0E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 23636122 | stop gained | T/A | snv | 8.0E-06 | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||
|
1.000 | 0.080 | 16 | 23630142 | stop gained | A/C | snv | 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
0.925 | 0.080 | 16 | 23614091 | stop gained | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
1.000 | 0.080 | 16 | 23626334 | stop gained | C/A;G;T | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23629768 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 |