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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 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 | |||||||
|
0.827 | 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 | |||||||
|
0.827 | 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 | ||||||
|
1.000 | 0.080 | 17 | 61808488 | missense variant | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 7 | 2001 | 2014 | ||||||||
|
0.925 | 0.200 | 17 | 61683645 | frameshift variant | G/- | delins | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 6 | 2005 | 2016 | |||||||
|
0.925 | 0.200 | 17 | 61847100 | splice donor variant | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2005 | 2016 | ||||||||
|
0.925 | 0.200 | 17 | 61776487 | frameshift variant | -/A | delins | 8.0E-06 | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2006 | 2018 | ||||||
|
0.925 | 0.200 | 17 | 61685952 | frameshift variant | AGAT/-;AGATAGAT | delins | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2008 | 2011 | |||||||
|
0.925 | 0.200 | 17 | 61685949 | frameshift variant | G/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2008 | 2011 | ||||||||
|
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 | ||||||
|
0.925 | 0.200 | 17 | 61799099 | splice donor variant | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2005 | 2011 | ||||||||
|
0.925 | 0.200 | 17 | 61801252 | splice donor variant | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2005 | 2011 | ||||||||
|
0.925 | 0.200 | 17 | 61861446 | splice donor variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2005 | 2011 | ||||||||
|
0.925 | 0.200 | 17 | 61693513 | splice acceptor variant | C/G;T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2005 | 2011 | |||||||
|
0.925 | 0.200 | 17 | 61847222 | splice acceptor variant | T/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2005 | 2011 | ||||||||
|
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 | ||||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.925 | 0.200 | 17 | 61683718 | stop gained | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.925 | 0.200 | 17 | 61683816 | stop gained | A/C | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||||
|
0.925 | 0.200 | 17 | 61683736 | stop gained | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 |