NBEAL1, neurobeachin like 1, 65065
N. diseases: 60; N. variants: 24
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 203058724 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203105560 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 203189019 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203079305 | intron variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203220912 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203049219 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203097307 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 203133613 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 203097423 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203122831 | intron variant | C/T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203017870 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 203181803 | non coding transcript exon variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203223799 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203197606 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203048829 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 203141914 | intron variant | T/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203148067 | intron variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203062828 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203099414 | intron variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203066289 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |