RB1, RB transcriptional corepressor 1, 5925
N. diseases: 339; N. variants: 239
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 13 | 48452997 | missense variant | C/T | snv |
|
Neoplasms; Eye Diseases | 0.800 | 1.000 | 19 | 1989 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 48364961 | missense variant | G/A | snv | 3.7E-04 | 2.8E-04 |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 19 | 1989 | 2017 | ||||||
|
1.000 | 0.080 | 13 | 48368550 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 19 | 1989 | 2017 | ||||||
|
1.000 | 0.080 | 13 | 48463758 | missense variant | T/C | snv |
|
Neoplasms; Eye Diseases | 0.800 | 1.000 | 13 | 1989 | 2001 | ||||||||
|
1.000 | 0.080 | 13 | 48362847 | stop gained | C/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 10 | 1994 | 2016 | ||||||||
|
1.000 | 0.080 | 13 | 48368549 | stop gained | C/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 8 | 1995 | 2016 | ||||||||
|
1.000 | 0.080 | 13 | 48473391 | splice donor variant | G/A;T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 8 | 2003 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 48367512 | stop gained | C/G;T | snv | 1.2E-05 |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 7 | 1994 | 2017 | |||||||
|
1.000 | 0.080 | 13 | 48379624 | stop gained | C/T | snv | 7.0E-06 |
|
Neoplasms; Eye Diseases | 0.710 | 1.000 | 7 | 1996 | 2016 | |||||||
|
1.000 | 0.080 | 13 | 48379594 | stop gained | C/T | snv | 4.0E-06 |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 7 | 1989 | 2016 | |||||||
|
1.000 | 0.080 | 13 | 48381402 | stop gained | C/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 6 | 1994 | 2016 | ||||||||
|
1.000 | 0.080 | 13 | 48345110 | missense variant | A/T | snv | 3.4E-04 | 3.9E-04 |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 6 | 2004 | 2017 | ||||||
|
1.000 | 0.080 | 13 | 48465238 | stop gained | C/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 5 | 1989 | 2015 | ||||||||
|
1.000 | 0.080 | 13 | 48456342 | frameshift variant | -/A | delins |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 5 | 2005 | 2015 | ||||||||
|
1.000 | 0.080 | 13 | 48463835 | missense variant | G/A;T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 5 | 1997 | 2012 | ||||||||
|
1.000 | 0.080 | 13 | 48362859 | stop gained | C/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 5 | 1994 | 2016 | ||||||||
|
1.000 | 0.080 | 13 | 48465112 | splice donor variant | G/A;C | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 4 | 2005 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 48362957 | missense variant | G/A;C | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 4 | 2001 | 2015 | ||||||||
|
1.000 | 0.080 | 13 | 48380062 | stop gained | C/A;G;T | snv | 7.6E-06 |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 4 | 1995 | 2015 | |||||||
|
1.000 | 0.080 | 13 | 48303925 | frameshift variant | -/C | delins |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 3 | 2003 | 2015 | ||||||||
|
1.000 | 0.080 | 13 | 48345108 | stop gained | G/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 3 | 1996 | 2013 | ||||||||
|
1.000 | 0.080 | 13 | 48453032 | stop gained | C/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 3 | 2003 | 2015 | ||||||||
|
1.000 | 0.080 | 13 | 48362865 | frameshift variant | AACAG/- | delins |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 3 | 1997 | 2015 | ||||||||
|
1.000 | 0.080 | 13 | 48379606 | missense variant | G/A | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 48367493 | splice acceptor variant | G/A;T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 2 | 2007 | 2016 |