CACNA1A, calcium voltage-gated channel subunit alpha1 A, 773
N. diseases: 320; N. variants: 106
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 | 19 | 13234966 | missense variant | T/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.710 | 1.000 | 15 | 1996 | 2011 | ||||||||
|
1.000 | 0.120 | 19 | 13365358 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.710 | 1.000 | 15 | 1996 | 2011 | ||||||||
|
0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.120 | 19 | 13308452 | missense variant | C/T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.710 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.040 | 19 | 13264099 | intron variant | T/C | snv | 0.21 |
|
Eye Diseases | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.160 | 19 | 13359680 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||
|
0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
19 | 13286952 | frameshift variant | -/A | delins | 4.2E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
1.000 | 19 | 13298827 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||||
|
1.000 | 19 | 13298827 | stop gained | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
1.000 | 19 | 13298847 | frameshift variant | -/A | ins |
|
0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||||
|
0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||
|
0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
1.000 | 0.120 | 19 | 13365335 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 15 | 1996 | 2011 | ||||||||
|
1.000 | 0.120 | 19 | 13257499 | missense variant | C/G;T | snv | 4.3E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 15 | 1996 | 2011 | |||||||
|
1.000 | 0.120 | 19 | 13257466 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 15 | 1996 | 2011 | ||||||
|
1.000 | 0.120 | 19 | 13209438 | missense variant | G/A | snv | 4.5E-05 | 6.3E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 15 | 1996 | 2011 | ||||||
|
1.000 | 0.120 | 19 | 13334411 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 15 | 1996 | 2011 | ||||||||
|
1.000 | 0.120 | 19 | 13317168 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 15 | 1996 | 2011 | ||||||
|
1.000 | 0.120 | 19 | 13299243 | missense variant | A/G | snv | 4.1E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 15 | 1996 | 2011 | |||||||
|
1.000 | 0.120 | 19 | 13228722 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 15 | 1996 | 2011 | ||||||||
|
1.000 | 0.120 | 19 | 13308123 | missense variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 15 | 1996 | 2011 | ||||||||
|
1.000 | 0.120 | 19 | 13298946 | missense variant | G/A;C | snv | 5.6E-05; 1.1E-03 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 14 | 1996 | 2011 |