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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 49157384 | intron variant | A/C | snv | 4.0E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
18 | 49157384 | intron variant | A/C | snv | 4.0E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 18 | 49118866 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2003 | 2009 | ||||||||
|
18 | 49055989 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
18 | 49041414 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 49363568 | intron variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 49292340 | intron variant | A/G | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 49358655 | intron variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.280 | 18 | 49378592 | stop gained | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
18 | 49078481 | intron variant | A/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 18 | 49379693 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2003 | 2009 | |||||||
|
18 | 49320739 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 49250518 | intron variant | C/T | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 49130988 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 49057814 | intron variant | C/T | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.280 | 18 | 49258494 | splice acceptor variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
18 | 49061284 | intron variant | G/A | snv | 0.71 |
|
0.700 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
18 | 49061284 | intron variant | G/A | snv | 0.71 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
18 | 49127010 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.280 | 18 | 49430347 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
18 | 49227694 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
18 | 49362269 | intron variant | G/C | snv | 5.5E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 49433130 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
18 | 49433130 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
18 | 49311208 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |