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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 8 | 6538661 | intron variant | A/C | snv | 0.40 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 8 | 6538661 | intron variant | A/C | snv | 0.40 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 8 | 6538661 | intron variant | A/C | snv | 0.40 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 8 | 6538661 | intron variant | A/C | snv | 0.40 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.040 | 8 | 6538837 | intron variant | A/G | snv | 0.20 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.040 | 8 | 6538837 | intron variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.200 | 8 | 6531695 | intron variant | T/G | snv | 0.49 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 8 | 6531695 | intron variant | T/G | snv | 0.49 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 8 | 6531695 | intron variant | T/G | snv | 0.49 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 8 | 6531695 | intron variant | T/G | snv | 0.49 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.040 | 8 | 6539242 | intron variant | G/A;T | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 8 | 6539242 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.120 | 8 | 6539477 | intron variant | G/C | snv | 0.55 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 8 | 6529226 | intron variant | T/A;C;G | snv |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 8 | 6499860 | stop gained | G/A;T | snv | 1.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 8 | 6537300 | intron variant | T/C | snv | 0.71 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 8 | 6537300 | intron variant | T/C | snv | 0.71 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
8 | 6531012 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 6530918 | intron variant | C/T | snv | 0.19 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
8 | 6522411 | intron variant | G/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 8 | 6562969 | 5 prime UTR variant | C/G | snv | 6.7E-02 | 5.9E-02 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.120 | 8 | 6563013 | 5 prime UTR variant | A/G | snv | 0.69 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 8 | 6563013 | 5 prime UTR variant | A/G | snv | 0.69 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.040 | 8 | 6539909 | intron variant | A/T | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 8 | 6539909 | intron variant | A/T | snv | 0.57 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |