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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
X | 47576648 | splice region variant | A/C;T | snv | 4.3E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
X | 47576648 | splice region variant | A/C;T | snv | 4.3E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
X | 47576648 | splice region variant | A/C;T | snv | 4.3E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
X | 47576648 | splice region variant | A/C;T | snv | 4.3E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.160 | X | 47576222 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | X | 47574544 | frameshift variant | -/G | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | X | 47605381 | splice acceptor variant | T/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | X | 47574285 | missense variant | T/C | snv | 1.1E-03 | 1.4E-02 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||
|
0.790 | 0.200 | X | 47574321 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 47574336 | missense variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | X | 47575136 | missense variant | G/A | snv | 1.2E-03 | 3.8E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||
|
0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 |
|
Eye Diseases | 0.030 | 1.000 | 3 | 2011 | 2015 | ||||||
|
0.790 | 0.200 | X | 47574321 | stop gained | G/A | snv |
|
Mental Disorders | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.790 | 0.200 | X | 47574321 | stop gained | G/A | snv |
|
Mental Disorders | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 |
|
Digestive System Diseases; Infections | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||||
|
0.790 | 0.200 | X | 47585887 | 3 prime UTR variant | A/G;T | snv | 0.46 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2017 | 2020 | |||||||
|
1.000 | 0.040 | X | 47583421 | synonymous variant | C/A | snv | 1.7E-05 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | X | 47606962 | missense variant | A/C;G | snv | 0.37 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.160 | X | 47574285 | missense variant | T/C | snv | 1.1E-03 | 1.4E-02 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.882 | 0.160 | X | 47574285 | missense variant | T/C | snv | 1.1E-03 | 1.4E-02 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.790 | 0.200 | X | 47587120 | intron variant | T/G | snv | 0.44 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.790 | 0.200 | X | 47587120 | intron variant | T/G | snv | 0.44 |
|
Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.200 | X | 47587120 | intron variant | T/G | snv | 0.44 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.790 | 0.200 | X | 47587120 | intron variant | T/G | snv | 0.44 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.790 | 0.200 | X | 47587120 | intron variant | T/G | snv | 0.44 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |