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 | 1996950 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 2050390 | intron variant | A/G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 12 | 2061267 | intron variant | C/A;T | snv |
|
Mental Disorders | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.925 | 0.040 | 12 | 2065738 | intron variant | C/T | snv | 9.4E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 12 | 2065738 | intron variant | C/T | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
12 | 2075300 | intron variant | G/C | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
0.925 | 0.040 | 12 | 2113566 | intron variant | T/C;G | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 12 | 2113566 | intron variant | T/C;G | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 2115062 | intron variant | C/A;G | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 2115062 | intron variant | C/A;G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 2115290 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 12 | 2185990 | intron variant | C/T | snv | 1.7E-02 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 12 | 2206827 | intron variant | C/T | snv | 0.34 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 12 | 2207029 | intron variant | T/A;C | snv | 0.34 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 12 | 2207029 | intron variant | T/A;C | snv | 0.34 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 12 | 2207029 | intron variant | T/A;C | snv | 0.34 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 12 | 2207029 | intron variant | T/A;C | snv | 0.34 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 12 | 2212702 | intron variant | A/T | snv | 0.53 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 12 | 2213347 | intron variant | A/G | snv | 0.26 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 12 | 2222406 | non coding transcript exon variant | A/G | snv | 0.37 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 12 | 2223227 | intron variant | A/C | snv | 0.36 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 12 | 2228294 | intron variant | G/A | snv | 0.51 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 12 | 2235478 | intron variant | G/A | snv | 0.36 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 |
|
Mental Disorders | 0.710 | 1.000 | 7 | 2014 | 2019 | |||||||
|
0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2011 | 2011 |