CACNA1E, calcium voltage-gated channel subunit alpha1 E, 777
N. diseases: 63; N. variants: 30
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 | 1 | 181724496 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 181724488 | missense variant | T/C | snv |
|
0.800 | 0 | |||||||||||||
|
1.000 | 0.080 | 1 | 181514928 | intron variant | T/A | snv | 0.48 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1 | 181453299 | intron variant | T/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 181797301 | intron variant | T/C | snv | 6.3E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 181797301 | intron variant | T/C | snv | 6.3E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 181797301 | intron variant | T/C | snv | 6.3E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 181776565 | intron variant | C/A | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 1 | 181581329 | intron variant | A/G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 181570611 | intron variant | G/A | snv | 0.23 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 181576364 | intron variant | G/T | snv | 0.23 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 181568576 | intron variant | T/C | snv | 0.88 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.040 | 1 | 181732663 | missense variant | T/A | snv | 0.13 | 0.13 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.040 | 1 | 181732663 | missense variant | T/A | snv | 0.13 | 0.13 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.040 | 1 | 181732663 | missense variant | T/A | snv | 0.13 | 0.13 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.040 | 1 | 181576458 | intron variant | A/G | snv | 0.58 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 181569136 | intron variant | G/A;C | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 181428088 | intron variant | T/C | snv | 0.11 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1 | 181543317 | intron variant | G/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 181602315 | intron variant | T/C | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 1 | 181724499 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 1 | 181721870 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 1 | 181579138 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 1 | 181757085 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 181771065 | intron variant | T/C | snv | 0.79 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 |