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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 8 | 86670970 | missense variant | G/A | snv | 5.2E-05 | 4.9E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 10 | 2000 | 2017 | ||||||
|
0.925 | 0.120 | 8 | 86632768 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 7 | 2000 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86647865 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 7 | 2000 | 2017 | ||||||||
|
0.925 | 0.120 | 8 | 86628994 | missense variant | A/C;T | snv | 5.9E-04; 4.4E-05 |
|
0.800 | 0 | |||||||||||
|
1.000 | 0.120 | 8 | 86726550 | missense variant | C/T | snv | 4.5E-04 | 5.6E-04 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 2000 | 2005 | ||||||
|
1.000 | 0.120 | 8 | 86579251 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 2000 | 2005 | ||||||||
|
1.000 | 0.120 | 8 | 86670995 | missense variant | T/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 2000 | 2005 | |||||||
|
0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 2003 | 2017 | |||||||
|
1.000 | 0.120 | 8 | 86604202 | missense variant | C/A;T | snv | 6.4E-05; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 2000 | 2005 | |||||||
|
1.000 | 0.120 | 8 | 86626024 | missense variant | C/A | snv | 1.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 2000 | 2005 | |||||||
|
0.925 | 0.120 | 8 | 86644689 | splice region variant | A/C;G | snv | 1.3E-05; 8.9E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 2004 | 2017 | |||||||
|
0.925 | 0.120 | 8 | 86644671 | stop gained | C/A | snv | 3.7E-05 | 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 2000 | 2017 | ||||||
|
0.851 | 0.120 | 8 | 86666951 | frameshift variant | AGTCTGGG/- | delins | 5.2E-05 | 7.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 2000 | 2017 | ||||||
|
1.000 | 0.120 | 8 | 86668055 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2000 | 2017 | |||||||
|
1.000 | 0.120 | 8 | 86671046 | stop gained | G/A | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2004 | 2017 | |||||||
|
0.925 | 0.120 | 8 | 86625982 | splice donor variant | C/A;T | snv | 2.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2005 | 2017 | |||||||
|
0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2000 | 2019 | |||||||
|
0.925 | 0.120 | 8 | 86743516 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2005 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86611672 | splice acceptor variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86629033 | frameshift variant | G/- | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 86604099 | frameshift variant | -/C | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.925 | 0.120 | 8 | 86667134 | splice acceptor variant | C/G | snv | 4.0E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2005 | 2017 | ||||||
|
0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2000 | 2019 | |||||||
|
1.000 | 0.120 | 8 | 86643866 | stop gained | G/A;T | snv | 2.0E-05; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2005 | 2017 | |||||||
|
1.000 | 0.120 | 8 | 86667131 | stop gained | G/A | snv | 2.0E-05 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2005 | 2017 |