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 | 0.120 | 1 | 161781910 | splice region variant | -/G | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 1 | 161912359 | frameshift variant | T/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 1 | 161819741 | missense variant | G/A;C | snv | 2.4E-05 | 7.0E-06 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 1 | 161791469 | frameshift variant | -/T | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 1 | 161791406 | splice region variant | -/G | delins |
|
0.700 | 0 | |||||||||||||
|
1 | 161841765 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1.000 | 0.080 | 1 | 161787246 | intron variant | A/T | snv | 0.21 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 161892765 | intron variant | G/A | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.080 | 1 | 161805787 | intron variant | A/G | snv | 0.21 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 161823822 | intron variant | G/A | snv | 0.20 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 161897699 | intron variant | G/A | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.882 | 0.120 | 1 | 161816705 | intron variant | A/G | snv | 2.1E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 1 | 161816705 | intron variant | A/G | snv | 2.1E-02 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.120 | 1 | 161816705 | intron variant | A/G | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1 | 161879595 | intron variant | A/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.080 | 1 | 161913293 | intron variant | G/A | snv | 0.21 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 161769400 | intron variant | A/G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.120 | 1 | 161821166 | splice region variant | G/A;C | snv | 4.3E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 1 | 161821166 | splice region variant | G/A;C | snv | 4.3E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 161819693 | missense variant | C/T | snv | 1.6E-05 | 5.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.120 | 1 | 161863292 | missense variant | T/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 161863292 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 1 | 161766447 | splice region variant | G/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 1 | 161766447 | splice region variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 161784094 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 |