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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 17 | 43093817 | stop gained | C/A;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43067625 | missense variant | T/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 17 | 43115750 | missense variant | G/C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 17 | 43074482 | stop gained | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43094472 | stop gained | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43057117 | stop gained | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 43070962 | missense variant | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 17 | 43074519 | stop gained | G/C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 17 | 43047666 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.200 | 17 | 43092809 | stop gained | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43104136 | stop gained | C/A;G;T | snv | 8.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 43094839 | missense variant | G/A | snv | 4.4E-05 | 7.0E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 17 | 43094495 | missense variant | G/A;C | snv | 1.8E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 17 | 43093496 | stop gained | T/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 43093286 | missense variant | C/A;G;T | snv | 8.0E-06; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.200 | 17 | 43057078 | stop gained | G/A;C;T | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.080 | 17 | 43091477 | stop gained | C/A;G;T | snv | 2.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 17 | 43094465 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43063372 | stop gained | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 43094720 | missense variant | C/A;G;T | snv | 4.0E-06; 9.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 43093529 | missense variant | G/A | snv | 3.2E-05 | 1.0E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.200 | 17 | 43104928 | stop gained | G/A;C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43074403 | stop gained | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43063890 | stop gained | C/T | snv | 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 17 | 43071225 | stop gained | G/A;C | snv | 4.0E-06 | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 |