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 | ||||||
|
0.732 | 0.160 | 17 | 61849946 | intron variant | A/C | snv | 0.15 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.120 | 17 | 61685986 | missense variant | A/G | snv | 0.60 | 0.61 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 0.750 | 4 | 2006 | 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 | |||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.851 | 0.120 | 17 | 61779284 | intron variant | A/G | snv | 0.75 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
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 | |||||||
|
0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.280 | 17 | 61857233 | splice acceptor variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2005 | 2016 | ||||||
|
0.882 | 0.280 | 17 | 61685835 | splice donor variant | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2005 | 2011 | ||||||||
|
0.882 | 0.280 | 17 | 61799200 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
0.882 | 0.280 | 17 | 61793698 | stop gained | C/A;G | snv | 4.0E-06 | 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
0.882 | 0.280 | 17 | 61743118 | frameshift variant | -/A | delins | 8.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 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 | ||||||||
|
0.882 | 0.120 | 17 | 61736921 | intron variant | A/G | snv | 0.73 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 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 | |||||||||||
|
0.882 | 0.280 | 17 | 61784425 | splice acceptor variant | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.280 | 17 | 61808545 | frameshift variant | A/- | del |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.280 | 17 | 61859808 | stop gained | G/A | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.280 | 17 | 61859868 | stop gained | C/A;T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.280 | 17 | 61780342 | frameshift variant | -/C | ins | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.280 | 17 | 61743015 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.280 | 17 | 61684053 | frameshift variant | TGTT/-;TGTTTGTT | delins | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 |