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 | 0.080 | 20 | 1980445 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 2010 | 2013 | ||||||
|
1.000 | 0.080 | 20 | 1980456 | missense variant | A/G | snv | 2.0E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 2010 | 2013 | ||||||
|
1.000 | 0.080 | 20 | 1980674 | missense variant | C/A | snv | 5.6E-05 | 7.7E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 2010 | 2013 | ||||||
|
1.000 | 0.080 | 20 | 1980454 | missense variant | G/A | snv | 3.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.080 | 20 | 1980472 | missense variant | G/A | snv | 1.2E-04 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 4 | 2010 | 2013 | ||||||
|
20 | 1966633 | intron variant | A/G | snv | 2.0E-02 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
20 | 1970274 | intron variant | A/G | snv | 4.6E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 1950251 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
20 | 1950251 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
20 | 1950239 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 2007953 | intron variant | A/C;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
20 | 1950355 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 2014888 | intron variant | A/G | snv | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 20 | 1980471 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 20 | 1983020 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 20 | 1973693 | intron variant | C/G;T | snv |
|
Chemically-Induced Disorders; Mental Disorders | 0.040 | 0.750 | 4 | 2009 | 2019 | ||||||||
|
0.851 | 0.120 | 20 | 1994212 | 5 prime UTR variant | T/C | snv | 0.50 |
|
Chemically-Induced Disorders; Mental Disorders | 0.030 | 0.667 | 3 | 2009 | 2019 | |||||||
|
0.851 | 0.120 | 20 | 1994212 | 5 prime UTR variant | T/C | snv | 0.50 |
|
Chemically-Induced Disorders; Mental Disorders | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
0.882 | 0.120 | 20 | 1989288 | intron variant | A/G | snv | 0.40 |
|
Chemically-Induced Disorders; Mental Disorders | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.925 | 0.080 | 20 | 1991814 | intron variant | T/C | snv | 0.16 |
|
Chemically-Induced Disorders; Mental Disorders | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.851 | 0.120 | 20 | 1979580 | 3 prime UTR variant | A/G | snv | 0.35 |
|
Chemically-Induced Disorders; Mental Disorders | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.925 | 0.080 | 20 | 1973693 | intron variant | C/G;T | snv |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 20 | 1982967 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.851 | 0.120 | 20 | 1994212 | 5 prime UTR variant | T/C | snv | 0.50 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.120 | 20 | 1994212 | 5 prime UTR variant | T/C | snv | 0.50 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2009 | 2009 |