NBN, nibrin, 4683
N. diseases: 291; N. variants: 194
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 15 | 2000 | 2017 | |||||||
|
1.000 | 0.040 | 8 | 89955538 | frameshift variant | G/- | delins | 2.4E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 1998 | 2015 | ||||||
|
1.000 | 0.040 | 8 | 89982766 | stop gained | G/A | snv | 3.2E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2014 | 2017 | ||||||
|
1.000 | 0.040 | 8 | 89971174 | frameshift variant | TTTG/- | delins | 2.0E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1998 | 2017 | ||||||
|
0.882 | 0.120 | 8 | 89943320 | stop gained | G/C | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2012 | 2016 | ||||||
|
1.000 | 0.040 | 8 | 89970451 | frameshift variant | AC/- | delins | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2014 | 2016 | |||||||
|
0.882 | 0.160 | 8 | 89947835 | stop gained | T/A | snv | 3.9E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||||
|
1.000 | 0.040 | 8 | 89955282 | splice donor variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 8 | 89964428 | stop gained | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
8 | 89958725 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | 8 | 89943297 | stop gained | G/A;C | snv | 2.4E-05; 4.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 8 | 89958819 | stop gained | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 8 | 89958856 | splice acceptor variant | T/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 8 | 89946236 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 8 | 89982719 | splice region variant | CAGGTTGGTTAC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 8 | 89958724 | splice donor variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 8 | 89953372 | frameshift variant | -/T | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 8 | 89984551 | frameshift variant | A/- | del | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||
|
8 | 89943276 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 8 | 89947853 | frameshift variant | CCTT/- | delins | 8.5E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||
|
8 | 89978239 | stop gained | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
8 | 89982817 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 8 | 89958760 | stop gained | G/A;T | snv | 5.2E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 8 | 89955284 | frameshift variant | T/-;TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
8 | 89981374 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 |