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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 19 | 13262790 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 19 | 13255217 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.925 | 0.120 | 19 | 13228767 | stop gained | GT/- | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 19 | 13257514 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 13298878 | stop gained | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 13300638 | stop gained | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 13308496 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 13259661 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 13262772 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 13317198 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 13277108 | stop gained | G/A;C | snv | 4.8E-05 | 4.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 19 | 13212204 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.732 | 0.160 | 19 | 13303877 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 22 | 1996 | 2017 | ||||||||
|
1.000 | 0.120 | 19 | 13261495 | missense variant | A/C | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.810 | 1.000 | 16 | 1996 | 2014 | ||||||||
|
0.882 | 0.160 | 19 | 13359707 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1996 | 2011 | ||||||||
|
0.882 | 0.200 | 19 | 13235702 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1996 | 2011 | ||||||||
|
0.925 | 0.120 | 19 | 13231847 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.810 | 1.000 | 15 | 1996 | 2011 | ||||||||
|
1.000 | 0.120 | 19 | 13365344 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1996 | 2011 | ||||||||
|
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 | 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 | 13257474 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.800 | 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 |