BRCA2, BRCA2 DNA repair associated, 675
N. diseases: 656; N. variants: 3066
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.923 | 13 | 2000 | 2017 | ||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.740 | 0.875 | 8 | 2013 | 2017 | ||||||
|
0.925 | 0.080 | 13 | 32336705 | missense variant | A/G | snv | 2.3E-04 | 1.7E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2003 | 2017 | ||||||
|
0.925 | 0.080 | 13 | 32340099 | missense variant | C/T | snv | 1.8E-02 | 1.8E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2005 | 2019 | ||||||
|
0.827 | 0.240 | 13 | 32363389 | missense variant | G/A;T | snv | 7.9E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2003 | 2017 | |||||||
|
0.925 | 0.080 | 13 | 32316486 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 0.500 | 2 | 2006 | 2009 | |||||||
|
0.827 | 0.120 | 13 | 32340327 | missense variant | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2005 | 2015 | ||||||||
|
0.925 | 0.080 | 13 | 32356514 | missense variant | G/A | snv | 1.6E-04 | 3.5E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2017 | 2017 | ||||||
|
0.882 | 0.080 | 13 | 32337468 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.925 | 0.080 | 13 | 32356462 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.200 | 13 | 32356461 | missense variant | T/C | snv | 1.9E-02 | 8.5E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||
|
0.708 | 0.280 | 13 | 32394673 | intron variant | T/C | snv | 6.6E-03 | 6.0E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.080 | 13 | 32332437 | missense variant | T/C | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.925 | 0.080 | 13 | 32398875 | 3 prime UTR variant | A/C | snv | 0.15 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 13 | 32337326 | missense variant | A/G | snv | 5.4E-02 | 4.5E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.925 | 0.080 | 13 | 32355095 | synonymous variant | A/G;T | snv | 0.23; 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.120 | 13 | 32398747 | missense variant | A/G | snv | 2.3E-02 | 3.8E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.080 | 13 | 32332843 | synonymous variant | A/G | snv | 5.2E-02 | 3.8E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||
|
0.925 | 0.080 | 13 | 32391173 | intron variant | G/A | snv | 0.21 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 13 | 32337113 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
0.807 | 0.200 | 13 | 32339456 | stop gained | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 13 | 32332629 | missense variant | C/G;T | snv | 7.6E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.851 | 0.200 | 13 | 32337513 | stop gained | T/G | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |