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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.730 | 1.000 | 23 | 1994 | 2019 | |||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.870 | 1.000 | 12 | 2004 | 2019 | |||||||
|
0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.060 | 0.667 | 6 | 2009 | 2019 | |||||||
|
0.807 | 0.280 | 17 | 43071077 | missense variant | T/A;C | snv | 5.2E-05; 0.35 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||||
|
0.925 | 0.080 | 17 | 43094612 | missense variant | T/C | snv | 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 17 | 43070958 | missense variant | C/T | snv | 1.8E-02 | 1.4E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.851 | 0.200 | 17 | 43076600 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 17 | 43106480 | stop gained | A/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.752 | 0.240 | 17 | 43094464 | missense variant | T/C | snv | 4.7E-02 | 4.6E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 0.667 | 3 | 2002 | 2018 | ||||||
|
0.925 | 0.080 | 17 | 43092125 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.080 | 17 | 43091030 | stop gained | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.200 | 17 | 43115745 | missense variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 17 | 43099867 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.080 | 17 | 43071164 | frameshift variant | CT/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 17 | 43094138 | missense variant | A/C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 25 | 1994 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 43093876 | missense variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 25 | 1994 | 2017 | ||||||||
|
0.925 | 0.080 | 17 | 43092856 | stop gained | A/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 25 | 1994 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 43092652 | missense variant | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 25 | 1994 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 43092457 | missense variant | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 25 | 1994 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 43092391 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 25 | 1994 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 43067624 | missense variant | A/G;T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 25 | 1994 | 2017 | |||||||
|
1.000 | 0.080 | 17 | 43057126 | missense variant | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 25 | 1994 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 43057071 | missense variant | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 25 | 1994 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 43049145 | missense variant | C/A;G | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 25 | 1994 | 2017 |