ACTA1, actin alpha 1, skeletal muscle, 58
N. diseases: 217; N. variants: 59
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 | 0.080 | 1 | 229433080 | stop gained | G/A;T | snv | 4.0E-06 | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 1 | 229432365 | missense variant | G/A;C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 229432063 | missense variant | C/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 229432270 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 229432269 | splice donor variant | C/G;T | snv | 1.4E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 229431904 | splice acceptor variant | T/A | snv | 4.1E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 229432591 | missense variant | G/A;C | snv | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 229431579 | missense variant | A/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 229432425 | missense variant | A/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 229432608 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 229432036 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 229432357 | missense variant | T/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 229432142 | stop gained | G/A;T | snv | 1.6E-05; 1.2E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 229431720 | splice donor variant | C/A;T | snv | 1.2E-05 | 1.4E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 1 | 229432568 | missense variant | C/G;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 229433031 | frameshift variant | -/A | ins | 1.6E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 229432117 | missense variant | T/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 229432333 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 1 | 229432838 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 1 | 229433067 | missense variant | C/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
1.000 | 0.080 | 1 | 229431501 | stop lost | A/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 1 | 229431999 | missense variant | A/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 1 | 229432867 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 229431788 | missense variant | T/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 229432864 | missense variant | A/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2010 |