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 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 5 | 88751929 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 5 | 88722779 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 88722779 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 88823746 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 5 | 88823746 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
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 | |||||||||
|
0.925 | 0.160 | 5 | 88823786 | start lost | C/G | snv |
|
0.700 | 1.000 | 4 | 2009 | 2013 | |||||||||
|
0.925 | 0.160 | 5 | 88823786 | start lost | C/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 4 | 2009 | 2013 | ||||||||
|
5 | 88733391 | intron variant | T/C;G | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
5 | 88867954 | intron variant | G/A | snv | 0.47 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||
|
5 | 88895818 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
5 | 88895818 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
5 | 88899133 | intron variant | C/T | snv | 0.61 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
5 | 88894787 | intron variant | A/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 88749212 | intron variant | C/A;G | snv | 6.1E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
5 | 88749212 | intron variant | C/A;G | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 5 | 88796133 | intron variant | A/G;T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |