ATF6, activating transcription factor 6, 22926
N. diseases: 179; N. variants: 30
Source: ALL
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 | 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 | 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 | 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 | 161784094 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 161853324 | splice donor variant | G/C | 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 | 161802157 | frameshift variant | -/C | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 161821081 | frameshift variant | -/A | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
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 | 0.120 | 1 | 161791469 | frameshift variant | -/T | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 |