STXBP1, syntaxin binding protein 1, 6812
N. diseases: 213; N. variants: 62
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 | 0.040 | 9 | 127682489 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 11 | 2008 | 2017 | ||||||||
|
1.000 | 0.040 | 9 | 127663314 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 11 | 2008 | 2017 | ||||||||
|
1.000 | 0.040 | 9 | 127676722 | missense variant | T/G | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 11 | 2008 | 2017 | ||||||||
|
1.000 | 0.040 | 9 | 127660034 | missense variant | T/A | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 11 | 2008 | 2017 | ||||||||
|
0.925 | 0.040 | 9 | 127668132 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 11 | 2008 | 2017 | ||||||||
|
0.925 | 0.040 | 9 | 127675910 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 6 | 2010 | 2016 | ||||||||
|
0.925 | 0.040 | 9 | 127668160 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 4 | 2014 | 2016 | ||||||||
|
0.827 | 0.120 | 9 | 127661140 | stop gained | C/A;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2012 | 2016 | |||||||
|
1.000 | 0.040 | 9 | 127666205 | stop gained | C/G;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2010 | 2015 | ||||||||
|
0.925 | 0.040 | 9 | 127678510 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
1.000 | 0.040 | 9 | 127682509 | missense variant | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2013 | 2016 | ||||||||
|
0.925 | 0.040 | 9 | 127675855 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
0.882 | 0.120 | 9 | 127661192 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.925 | 0.040 | 9 | 127663343 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 9 | 127668188 | splice donor variant | G/A;C | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.882 | 0.080 | 9 | 127666193 | frameshift variant | -/T | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 127672093 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 9 | 127666293 | missense variant | A/G | snv | 7.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 9 | 127651654 | splice donor variant | T/C | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 9 | 127658373 | splice acceptor variant | A/G | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 9 | 127660037 | frameshift variant | -/TC | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 9 | 127660108 | splice donor variant | TG/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 9 | 127675802 | splice acceptor variant | A/G | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 9 | 127651644 | stop gained | G/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 9 | 127680186 | frameshift variant | -/C | delins |
|
Nervous System Diseases | 0.700 | 0 |