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; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 12 | 2005 | 2016 | ||||||
|
0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 5 | 2014 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61744433 | frameshift variant | TT/- | delins | 1.2E-05 | 3.5E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 5 | 2005 | 2016 | ||||||
|
0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2015 | 2016 | ||||||||
|
0.882 | 0.280 | 17 | 61799125 | stop gained | G/A;T | snv | 1.2E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2016 | 2017 | |||||||
|
0.882 | 0.280 | 17 | 61683850 | frameshift variant | A/- | del | 2.0E-05 | 5.6E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2010 | 2015 | ||||||
|
0.925 | 0.240 | 17 | 61683805 | frameshift variant | -/A | delins | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2010 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61685976 | stop gained | A/C | snv | 1.2E-05 | 1.4E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2015 | 2016 | ||||||
|
0.882 | 0.280 | 17 | 61684053 | frameshift variant | TGTT/-;TGTTTGTT | delins | 2.1E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2008 | 2016 | |||||||
|
0.925 | 0.240 | 17 | 61808495 | frameshift variant | T/- | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2015 | 2016 | ||||||||
|
0.925 | 0.240 | 17 | 61684051 | frameshift variant | CTTT/- | delins | 1.6E-05 | 2.8E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2008 | 2018 | ||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.882 | 0.280 | 17 | 61793698 | stop gained | C/A;G | snv | 4.0E-06 | 2.8E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
0.882 | 0.280 | 17 | 61859868 | stop gained | C/A;T | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.882 | 0.280 | 17 | 61849155 | frameshift variant | TTCTT/- | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.240 | 17 | 61861461 | frameshift variant | -/A | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 17 | 61803285 | intron variant | T/C | snv | 7.8E-03 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.240 | 17 | 61801266 | frameshift variant | TG/- | delins | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61743118 | frameshift variant | -/A | delins | 8.0E-06 | 7.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.280 | 17 | 61780342 | frameshift variant | -/C | ins | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61743015 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.882 | 0.280 | 17 | 61857233 | splice acceptor variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.240 | 17 | 61847221 | splice acceptor variant | C/G | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.240 | 17 | 61744571 | frameshift variant | CTTTT/- | delins | 2.1E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.240 | 17 | 61776445 | stop gained | G/A | snv | 2.1E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 |