BRCA1, BRCA1 DNA repair associated, 672
N. diseases: 747; N. variants: 2600
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 17 | 43093322 | frameshift variant | T/- | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 43091438 | missense variant | A/C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 43091762 | frameshift variant | GTGTTCTTAGACAGACACT/- | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 43092435 | frameshift variant | T/- | del |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 43093592 | frameshift variant | TAGAACAACTATCAATTTGC/- | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 43093628 | frameshift variant | -/A | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 43093676 | frameshift variant | G/- | del |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 43094229 | frameshift variant | -/TGGCCAGTAAGTCTATTTTCTCTGAAGAACC | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 43094624 | frameshift variant | C/- | del |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43063375 | splice acceptor variant | T/- | del |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 17 | 43092179 | stop gained | G/A | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 43104217 | stop gained | C/A;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 17 | 43063332 | splice donor variant | C/- | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 17 | 43067608 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 17 | 43093910 | stop gained | G/A | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 17 | 43106456 | missense variant | C/A;G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43093193 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 17 | 43074519 | stop gained | G/C;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 17 | 43047666 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.200 | 17 | 43082539 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 17 | 43094338 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 17 | 43124063 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.200 | 17 | 43092263 | stop gained | G/A | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 |