HBS1L, HBS1 like translational GTPase, 10767
N. diseases: 49; N. variants: 124
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 135097778 | intron variant | A/G | snv | 0.24 |
|
0.800 | 1.000 | 4 | 2012 | 2018 | ||||||||||
|
1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 |
|
0.800 | 1.000 | 3 | 2010 | 2012 | ||||||||
|
6 | 135102071 | intron variant | T/C | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||||
|
6 | 135090090 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
6 | 135070962 | intron variant | C/A | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
6 | 135013462 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135051938 | intron variant | G/T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 134978544 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135102274 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135032314 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 135058010 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 134960657 | 3 prime UTR variant | C/T | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135070357 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 134987237 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135048775 | intron variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135026457 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135070327 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 135062651 | intron variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135060110 | intron variant | A/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135060213 | splice acceptor variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135101158 | intron variant | A/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135004780 | intron variant | C/T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135028432 | intron variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 134995888 | intron variant | A/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 134968644 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |