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 | 4 | 122249571 | missense variant | G/A | snv |
|
0.800 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
1.000 | 4 | 122309365 | missense variant | G/C | snv |
|
0.800 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
1.000 | 4 | 122243045 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||
|
1.000 | 0.080 | 4 | 122194117 | intron variant | C/G;T | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 4 | 122322441 | intron variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
4 | 122361617 | intron variant | G/A;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
4 | 122361617 | intron variant | G/A;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 4 | 122226815 | missense variant | C/T | snv |
|
0.800 | 0 | |||||||||||||
|
1.000 | 4 | 122250524 | missense variant | G/A | snv | 1.2E-05 |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv |
|
Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 4 | 122238125 | frameshift variant | A/- | delins | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 4 | 122239668 | missense variant | A/G | snv | 3.2E-05 | 5.6E-05 |
|
0.800 | 0 | |||||||||||
|
4 | 122265396 | intron variant | G/C | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 4 | 122265238 | intron variant | A/G | snv | 3.3E-02 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 4 | 122201701 | intron variant | A/G | snv | 3.4E-02 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 4 | 122201701 | intron variant | A/G | snv | 3.4E-02 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 4 | 122340375 | intron variant | A/C | snv | 5.1E-02 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 4 | 122219915 | intron variant | T/C | snv | 6.5E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 4 | 122219915 | intron variant | T/C | snv | 6.5E-02 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.280 | 4 | 122297158 | intron variant | A/G | snv | 0.10 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2009 | 2009 |