CACNA1S, calcium voltage-gated channel subunit alpha1 S, 779
N. diseases: 118; N. variants: 22
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 1 | 201053539 | missense variant | G/A;C | snv |
|
0.820 | 1.000 | 8 | 1994 | 2010 | |||||||||
|
0.827 | 0.200 | 1 | 201077915 | missense variant | C/A;T | snv | 1.2E-05 |
|
0.810 | 1.000 | 16 | 1994 | 2012 | ||||||||
|
0.925 | 0.160 | 1 | 201053538 | missense variant | C/T | snv | 4.0E-06 |
|
0.800 | 1.000 | 14 | 1994 | 2018 | ||||||||
|
0.827 | 0.200 | 1 | 201077915 | missense variant | C/A;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.750 | 1.000 | 5 | 1996 | 2014 | |||||||
|
0.925 | 0.160 | 1 | 201077916 | missense variant | G/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.740 | 1.000 | 4 | 2005 | 2015 | |||||||
|
0.925 | 0.160 | 1 | 201053538 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.720 | 1.000 | 2 | 1995 | 2007 | |||||||
|
0.882 | 0.200 | 1 | 201053539 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.720 | 1.000 | 2 | 2005 | 2007 | ||||||||
|
0.925 | 0.160 | 1 | 201077916 | missense variant | G/A;C | snv | 8.0E-06 |
|
0.710 | 1.000 | 7 | 1994 | 2010 | ||||||||
|
0.827 | 0.200 | 1 | 201077915 | missense variant | C/A;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 10 | 1994 | 2012 | ||||||||
|
0.925 | 0.160 | 1 | 201053538 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 7 | 1995 | 2015 | ||||||||
|
1 | 201047168 | missense variant | G/A | snv | 0.12 | 8.9E-02 |
|
0.700 | 1.000 | 5 | 2016 | 2019 | |||||||||
|
0.882 | 0.200 | 1 | 201053539 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 4 | 1994 | 2007 | |||||||||
|
1 | 201047168 | missense variant | G/A | snv | 0.12 | 8.9E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
1 | 201111046 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 1 | 201076345 | intron variant | A/G | snv | 0.25 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 201047168 | missense variant | G/A | snv | 0.12 | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 |
|
Mental Disorders; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 201077069 | missense variant | C/A;T | snv | 2.4E-05 | 4.2E-05 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 |