CNGB3, cyclic nucleotide gated channel subunit beta 3, 54714
N. diseases: 67; N. variants: 109
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 8 | 86643810 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2005 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86739658 | stop gained | G/A;C | snv | 4.2E-06; 4.2E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 8 | 86628918 | splice donor variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86668019 | missense variant | C/G;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 8 | 86666971 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86666924 | splice donor variant | C/A;G | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86579219 | frameshift variant | A/- | del | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 8 | 86604092 | splice donor variant | C/G;T | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.120 | 8 | 86643875 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 8 | 86668017 | splice donor variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 8 | 86743598 | frameshift variant | -/T | delins | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.807 | 0.120 | 8 | 86632864 | missense variant | C/T | snv | 4.6E-03 | 1.8E-03 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.807 | 0.120 | 8 | 86632864 | missense variant | C/T | snv | 4.6E-03 | 1.8E-03 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.807 | 0.120 | 8 | 86632864 | missense variant | C/T | snv | 4.6E-03 | 1.8E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.120 | 8 | 86632864 | missense variant | C/T | snv | 4.6E-03 | 1.8E-03 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.120 | 8 | 86575875 | frameshift variant | T/- | del |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86576013 | frameshift variant | C/- | del |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 8 | 86578688 | splice donor variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86579211 | missense variant | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86579254 | splice acceptor variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86604092 | splice donor variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86604123 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86611615 | stop gained | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86625991 | frameshift variant | -/GTCG | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86626027 | frameshift variant | T/AC | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 |