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 | ||||||||
|
9 | 127660080 | frameshift variant | C/- | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 27 | 1998 | 2016 | ||||||||||
|
9 | 127665304 | frameshift variant | -/A | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 27 | 1998 | 2016 | ||||||||||
|
9 | 127665304 | frameshift variant | -/A | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 27 | 1998 | 2016 | ||||||||||
|
9 | 127669950 | frameshift variant | G/- | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 27 | 1998 | 2016 | ||||||||||
|
9 | 127669950 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 27 | 1998 | 2016 | |||||||||||
|
9 | 127682485 | frameshift variant | G/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 27 | 1998 | 2016 | ||||||||||
|
9 | 127682485 | frameshift variant | G/- | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 27 | 1998 | 2016 | ||||||||||
|
9 | 127682451 | stop gained | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 27 | 1998 | 2016 | ||||||||||
|
0.925 | 0.040 | 9 | 127668160 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 27 | 1998 | 2016 | ||||||||
|
0.925 | 0.040 | 9 | 127668160 | missense variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 27 | 1998 | 2016 | ||||||||
|
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 | 127663343 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 4 | 2013 | 2015 | ||||||||
|
0.925 | 0.040 | 9 | 127668160 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 4 | 2014 | 2016 | ||||||||
|
0.925 | 0.040 | 9 | 127675910 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 4 | 2010 | 2015 | ||||||||
|
0.925 | 0.040 | 9 | 127668159 | missense variant | C/T | snv |
|
0.700 | 1.000 | 3 | 2015 | 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 | 127668160 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2014 | 2017 | ||||||||
|
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 |