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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||||
|
4 | 122359705 | synonymous variant | T/C | snv | 0.19 | 0.17 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 4 | 122306958 | intron variant | T/C | snv | 0.25 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 4 | 122151854 | upstream gene variant | T/C | snv | 0.24 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 4 | 122151854 | upstream gene variant | T/C | snv | 0.24 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 4 | 122151854 | upstream gene variant | T/C | snv | 0.24 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
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 | |||||||||
|
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 | |||||||
|
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 | 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 | |||||||||||
|
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 | 122309365 | missense variant | G/C | snv |
|
0.800 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
4 | 122265396 | intron variant | G/C | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
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 | 122243045 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2015 | 2018 |