BRIP1, BRCA1 interacting protein C-terminal helicase 1, 83990
N. diseases: 194; N. variants: 242
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | < 0.001 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.280 | 17 | 61849155 | frameshift variant | TTCTT/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.200 | 17 | 61861484 | frameshift variant | -/A | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.120 | 17 | 61789868 | intron variant | T/C | snv | 0.60 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.120 | 17 | 61863458 | 5 prime UTR variant | C/T | snv | 0.42 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.732 | 0.160 | 17 | 61849946 | intron variant | A/C | snv | 0.15 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 17 | 61784279 | missense variant | T/A | snv | 3.6E-05 | 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.882 | 0.120 | 17 | 61736921 | intron variant | A/G | snv | 0.73 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 17 | 61744510 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.280 | 17 | 61793727 | stop gained | C/A;T | snv | 2.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61744578 | stop gained | A/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.280 | 17 | 61859795 | splice donor variant | C/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 61784403 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 61857167 | stop gained | G/T | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 17 | 61781006 | splice acceptor variant | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 61859794 | splice donor variant | A/C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 61847214 | stop gained | T/A;C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 61686136 | stop gained | G/A;C | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 61776412 | frameshift variant | -/C | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 61847180 | frameshift variant | A/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 61808753 | splice acceptor variant | G/-;GG | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 61799278 | stop gained | G/A | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 17 | 61784303 | frameshift variant | -/T | delins | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 61683974 | frameshift variant | C/- | delins | 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 17 | 61801454 | stop gained | A/C | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 |