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 | 1 | 209790735 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 1 | 209785814 | 3 prime UTR variant | A/G | snv | 7.0E-04 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.120 | 1 | 209802041 | splice region variant | A/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
0.040 | 1.000 | 4 | 2004 | 2010 | |||||||
|
0.807 | 0.400 | 1 | 209792242 | intron variant | G/A;C;T | snv | 3.2E-05; 0.41; 4.3E-04 |
|
0.020 | 0.500 | 2 | 2015 | 2018 | ||||||||
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
0.050 | 1.000 | 5 | 2005 | 2017 | |||||||
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.730 | 0.750 | 4 | 2009 | 2019 | ||||||
|
0.827 | 0.280 | 1 | 209795339 | synonymous variant | C/A;T | snv | 0.41; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.400 | 1 | 209792242 | intron variant | G/A;C;T | snv | 3.2E-05; 0.41; 4.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.200 | 1 | 209801301 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.240 | 1 | 209796557 | splice region variant | G/C | snv | 0.32 | 0.32 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.120 | 1 | 209802041 | splice region variant | A/G | snv | 0.44 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.030 | 1.000 | 3 | 2009 | 2019 | ||||||
|
0.827 | 0.280 | 1 | 209795339 | synonymous variant | C/A;T | snv | 0.41; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.400 | 1 | 209792242 | intron variant | G/A;C;T | snv | 3.2E-05; 0.41; 4.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.740 | 1.000 | 5 | 2004 | 2015 | ||||||
|
1.000 | 0.080 | 1 | 209789449 | intron variant | G/A | snv | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||||
|
0.807 | 0.400 | 1 | 209792242 | intron variant | G/A;C;T | snv | 3.2E-05; 0.41; 4.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.020 | 0.500 | 2 | 2015 | 2018 | |||||||
|
1.000 | 0.080 | 1 | 209803766 | intron variant | A/G | snv | 0.82 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||||
|
1.000 | 0.080 | 1 | 209786269 | 3 prime UTR variant | G/T | snv | 0.23 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.280 | 1 | 209795339 | synonymous variant | C/A;T | snv | 0.41; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 1 | 209797265 | intron variant | G/A | snv | 0.36 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 |