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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 88842914 | intron variant | C/T | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 88842914 | intron variant | C/T | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 88817411 | intron variant | C/T | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 88811036 | intron variant | C/G | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 88858258 | intron variant | T/A | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 88816944 | intron variant | T/A | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 88892550 | intron variant | G/A | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 88897342 | intron variant | G/A | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 88787636 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
5 | 88887834 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 5 | 88804642 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 10 | 2007 | 2016 | ||||||||||
|
5 | 88804732 | stop gained | CA/- | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 10 | 2007 | 2016 | ||||||||||
|
5 | 88804732 | stop gained | CA/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 10 | 2007 | 2016 | ||||||||||
|
5 | 88804732 | stop gained | CA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 10 | 2007 | 2016 | ||||||||||
|
1.000 | 5 | 88804798 | missense variant | T/A | snv |
|
0.700 | 1.000 | 10 | 2007 | 2016 | ||||||||||
|
1.000 | 5 | 88804743 | missense variant | A/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 10 | 2007 | 2016 | |||||||||
|
1.000 | 5 | 88804743 | missense variant | A/G;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 10 | 2007 | 2016 | |||||||||
|
1.000 | 0.040 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
5 | 88895818 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 5 | 88804788 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 5 | 88823780 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 5 | 88823780 | missense variant | T/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 |