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 | 122243045 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||
|
4 | 122262050 | intron variant | A/C;G | snv | 0.13 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
4 | 122262050 | intron variant | A/C;G | snv | 0.13 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
4 | 122179956 | intron variant | T/C | snv | 0.13 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
4 | 122179956 | intron variant | T/C | snv | 0.13 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2009 | 2020 | |||||||
|
0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 4 | 122265238 | intron variant | A/G | snv | 3.3E-02 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 122263672 | intron variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 4 | 122219899 | intron variant | T/C | snv | 0.20 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 4 | 122219899 | intron variant | T/C | snv | 0.20 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 122265396 | intron variant | G/C | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
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 | |||||||
|
0.925 | 0.120 | 4 | 122335010 | intron variant | T/C | snv | 0.13 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 4 | 122335010 | intron variant | T/C | snv | 0.13 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
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 | |||||||
|
1.000 | 0.080 | 4 | 122342291 | intron variant | T/C | snv | 0.25 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv |
|
Respiratory Tract Diseases | 0.700 | 0 |