CACNA1C, calcium voltage-gated channel subunit alpha1 C, 775
N. diseases: 225; N. variants: 90
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 2414606 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
12 | 2075300 | intron variant | G/C | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
12 | 2391265 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
12 | 2681964 | missense variant | C/T | snv | 4.0E-06; 0.78 | 0.71 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
12 | 2257541 | intron variant | C/A | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 2542721 | intron variant | A/G | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 2365495 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 2488593 | intron variant | G/A | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 2050390 | intron variant | A/G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 2585472 | missense variant | C/G;T | snv | 0.11 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
12 | 2343026 | intron variant | A/G | snv | 2.0E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 2343026 | intron variant | A/G | snv | 2.0E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 2343026 | intron variant | A/G | snv | 2.0E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 2343026 | intron variant | A/G | snv | 2.0E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 1996950 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 2408721 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 2409186 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
12 | 2412413 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 2413815 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 2414189 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 2414189 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 2414204 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
12 | 2688693 | missense variant | G/A;T | snv | 4.1E-06; 1.2E-05 |
|
0.700 | 0 | |||||||||||||
|
12 | 2691089 | missense variant | G/A;T | snv | 8.2E-06 |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 |
|
Mental Disorders | 0.710 | 1.000 | 7 | 2014 | 2019 |