BUB1B, BUB1 mitotic checkpoint serine/threonine kinase B, 701
N. diseases: 231; N. variants: 21
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 15 | 40212643 | missense variant | C/T | snv | 8.0E-06 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.925 | 0.040 | 15 | 40220641 | missense variant | T/C | snv | 2.8E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1.000 | 0.040 | 15 | 40212554 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1.000 | 0.040 | 15 | 40217580 | missense variant | G/C | snv | 1.4E-04 | 2.9E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1.000 | 0.040 | 15 | 40217543 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 15 | 40202609 | missense variant | G/A | snv | 1.6E-03 | 4.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1.000 | 15 | 40165124 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.040 | 15 | 40209697 | frameshift variant | -/GTTA | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 15 | 40209697 | frameshift variant | -/GTTA | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 15 | 40206403 | stop gained | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 15 | 40199713 | stop gained | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 15 | 40200239 | splice region variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 15 | 40200239 | splice region variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 15 | 40200243 | splice acceptor variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 15 | 40200243 | splice acceptor variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 15 | 40206280 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 15 | 40206280 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 15 | 40220577 | stop gained | G/T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 15 | 40206302 | missense variant | T/C | snv | 2.0E-02 | 8.4E-02 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||
|
0.925 | 0.040 | 15 | 40212643 | missense variant | C/T | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 15 | 40220641 | missense variant | T/C | snv | 2.8E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 15 | 40176672 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 15 | 40176672 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 15 | 40210133 | stop gained | C/T | snv | 2.0E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||
|
0.925 | 0.040 | 15 | 40212488 | intron variant | A/G | snv | 2.0E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 |