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 | 229433007 | missense variant | C/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 16 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 229432020 | missense variant | T/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 229432723 | missense variant | A/G | snv | 1.4E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 1999 | 2015 | |||||||
|
0.925 | 0.080 | 1 | 229432660 | missense variant | T/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 1999 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 229432393 | missense variant | C/A;G;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 229431558 | missense variant | T/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 229431994 | missense variant | C/A;G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 229432596 | missense variant | G/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 229431899 | missense variant | A/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 229432813 | missense variant | A/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 229431727 | missense variant | C/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 229432877 | missense variant | C/A;T | snv | 4.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 1999 | 2015 | |||||||
|
1.000 | 0.080 | 1 | 229431559 | missense variant | C/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 1999 | 2015 | ||||||||
|
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 | 229432126 | missense variant | C/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 14 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 229432585 | missense variant | A/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 14 | 1999 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 229433109 | missense variant | C/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 13 | 1999 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 229431626 | missense variant | T/C;G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 13 | 1999 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 229432075 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 13 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 229432561 | missense variant | G/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2003 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 229432120 | missense variant | C/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2009 | 2014 | ||||||||
|
0.925 | 0.080 | 1 | 229433100 | stop gained | C/A;T | snv | 4.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 1988 | 2016 | |||||||
|
1.000 | 0.080 | 1 | 229432868 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2009 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 229432864 | missense variant | A/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.080 | 1 | 229432733 | inframe deletion | AAG/- | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2011 | 2017 |