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 | 48303715 | upstream gene variant | G/A | snv |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48303724 | upstream gene variant | G/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
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 | 48303947 | frameshift variant | C/- | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48303948 | frameshift variant | GCCGCCGCTGCCGCCGCGGAACCCCCGGC/- | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48303952 | frameshift variant | -/TGCCGCCGCGGAACCCCCGGCACCGC | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48303953 | frameshift variant | -/GCTGCCGCCGCGGAACCCCCGGC | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48303957 | frameshift variant | -/GGAACCCCCGGCACCGCCGCCGC | delins |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 13 | 48303958 | frameshift variant | -/GGAACCCCCGGCACCGCCGC | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48303979 | inframe insertion | GCC/-;GCCGCC | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48303991 | frameshift variant | C/- | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48304003 | frameshift variant | -/A | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48304015 | stop gained | C/G;T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48304025 | frameshift variant | GCC/CT | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48307353 | frameshift variant | AG/- | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48307359 | frameshift variant | A/- | del |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48307368 | frameshift variant | -/TA | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48342617 | stop gained | A/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 13 | 48342631 | frameshift variant | -/A | ins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48342638 | frameshift variant | GT/- | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48342704 | frameshift variant | TA/- | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48342708 | frameshift variant | A/- | delins |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48342714 | missense variant | G/A;C | snv |
|
Neoplasms; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 48342717 | splice region variant | A/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 13 | 48345079 | splice acceptor variant | G/A | snv |
|
Neoplasms; Eye Diseases | 0.700 | 0 |