BARD1, BRCA1 associated RING domain 1, 580
N. diseases: 75; N. variants: 176
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 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.080 | 0.625 | 8 | 2006 | 2012 | |||||||
|
0.827 | 0.120 | 2 | 214809500 | missense variant | G/A | snv | 0.38 | 0.33 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2007 | 2013 | ||||||
|
0.851 | 0.200 | 2 | 214745842 | stop gained | G/A | snv | 2.4E-05 | 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.080 | 2 | 214767532 | frameshift variant | -/TG | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2003 | 2006 | ||||||||
|
0.882 | 0.080 | 2 | 214767531 | missense variant | C/A;T | snv | 1.6E-05; 0.37 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2003 | 2006 | |||||||
|
0.882 | 0.080 | 2 | 214767531 | missense variant | CA/AG;TG | mnv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2003 | 2006 | ||||||||
|
0.882 | 0.080 | 2 | 214728935 | missense variant | A/G | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.200 | 2 | 214730458 | stop gained | CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
0.925 | 0.080 | 2 | 214780740 | missense variant | C/G;T | snv | 0.54 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2007 | 2013 | |||||||
|
0.925 | 0.200 | 2 | 214797118 | splice acceptor variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.925 | 0.120 | 2 | 214728728 | missense variant | C/T | snv | 1.7E-03 | 1.5E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.925 | 0.080 | 2 | 214745739 | missense variant | G/A;T | snv | 8.0E-06; 1.6E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.200 | 2 | 214780669 | stop gained | G/C;T | snv | 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 214730416 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 214728968 | frameshift variant | CCCAC/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 214752472 | stop gained | G/A;C | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2015 | 2016 | |||||||
|
1.000 | 0.080 | 2 | 214752424 | splice donor variant | CCAAAGCTAAATCCATACTTACTAC/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214809411 | splice donor variant | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214781510 | splice acceptor variant | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214728709 | frameshift variant | CA/- | delins | 3.2E-05 | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||||
|
1.000 | 0.080 | 2 | 214780559 | splice donor variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||||
|
1.000 | 0.080 | 2 | 214797099 | frameshift variant | TC/- | delins | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 2 | 214728724 | stop gained | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 2 | 214728911 | frameshift variant | C/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 2 | 214728931 | frameshift variant | -/T | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 |