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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 17 | 43091902 | missense variant | T/C | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 43071096 | frameshift variant | T/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43063952 | splice acceptor variant | C/A;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 43092113 | missense variant | T/C;G | snv | 2.5E-03 | 1.0E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.080 | 17 | 43092434 | stop gained | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 43091628 | missense variant | A/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 17 | 43082529 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43076579 | frameshift variant | TAG/AA | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 43094795 | missense variant | A/C;G | snv | 3.1E-04 | 2.6E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 17 | 43093448 | missense variant | C/A;T | snv | 4.4E-05; 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 43093103 | missense variant | T/A | snv | 6.8E-05 | 6.3E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 17 | 43093054 | missense variant | G/T | snv | 1.8E-04 | 2.0E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.200 | 17 | 43091783 | stop gained | C/A;T | snv | 8.0E-06; 2.0E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 43091823 | missense variant | A/C;G | snv | 2.6E-04 | 3.1E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 17 | 43090997 | missense variant | C/A;T | snv | 1.7E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 17 | 43094706 | frameshift variant | -/GCTCCACATG | delins | 6.0E-05; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 17 | 43091759 | frameshift variant | CC/G | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43092092 | frameshift variant | AAAC/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43094794 | frameshift variant | A/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 17 | 43093198 | frameshift variant | -/CA | delins | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 17 | 43057124 | frameshift variant | T/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 17 | 43091933 | stop gained | G/A | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 17 | 43092593 | frameshift variant | T/- | del |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 |