BRCA1, BRCA1 DNA repair associated, 672
N. diseases: 747; N. variants: 2600
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2006 | 2007 | ||||||||
|
1.000 | 0.080 | 17 | 43082453 | synonymous variant | A/G | snv | 0.35 | 0.30 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.160 | 17 | 43044391 | 3 prime UTR variant | G/A | snv | 0.34 | 0.31 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.080 | 17 | 43104223 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 17 | 43049170 | missense variant | A/G | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 17 | 43092137 | missense variant | T/C | snv | 1.6E-05 | 4.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.882 | 0.080 | 17 | 43082496 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||
|
0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 17 | 43051107 | missense variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 17 | 43063940 | missense variant | C/A;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.160 | 17 | 43063333 | splice region variant | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 |