BRCA2, BRCA2 DNA repair associated, 675
N. diseases: 656; N. variants: 3066
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.776 | 0.280 | 13 | 32338277 | stop gained | G/A;T | snv | 5.6E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.776 | 0.280 | 13 | 32338598 | stop gained | G/A;T | snv | 4.1E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 13 | 32370955 | splice acceptor variant | G/A;T | snv |
|
Neoplasms | 0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 13 | 32319101 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 13 | 32319109 | stop gained | G/A;T | snv | 4.0E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.776 | 0.280 | 13 | 32332877 | stop gained | A/T | snv | 4.0E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.752 | 0.440 | 13 | 32319154 | stop gained | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 13 | 32337464 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 13 | 32340000 | stop gained | C/A;G | snv | 1.6E-05 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.763 | 0.280 | 13 | 32340146 | stop gained | C/T | snv |
|
Neoplasms | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 13 | 32341011 | stop gained | C/G | snv |
|
Neoplasms | 0.700 | 0 | |||||||||||
|
0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv |
|
Neoplasms | 0.700 | 0 | |||||||||||
|
0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 13 | 32362596 | missense variant | A/G;T | snv |
|
Neoplasms | 0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 13 | 32363190 | missense variant | A/T | snv |
|
Neoplasms | 0.700 | 0 | |||||||||||
|
0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 |
|
Neoplasms | 0.700 | 0 | |||||||||
|
0.763 | 0.320 | 13 | 32329468 | frameshift variant | GT/- | delins |
|
Neoplasms | 0.700 | 0 |