MTM1, myotubularin 1, 4534
N. diseases: 125; N. variants: 140
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 | X | 150657977 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.810 | 1.000 | 18 | 1997 | 2015 | ||||||||
|
0.776 | 0.200 | X | 150659665 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 17 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150657887 | missense variant | C/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150657899 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150657927 | missense variant | C/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150657972 | missense variant | G/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150658000 | missense variant | G/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150598600 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150663460 | missense variant | T/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150598663 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150614617 | missense variant | T/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150641275 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150641290 | missense variant | A/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150641297 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150641354 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150641416 | missense variant | C/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150645683 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150645687 | missense variant | T/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150645795 | missense variant | T/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150659694 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150659700 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150657971 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1997 | 2002 | ||||||||
|
1.000 | 0.080 | X | 150614695 | splice donor variant | AGTAA/- | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 1997 | 2018 | ||||||||
|
0.882 | 0.080 | X | 150598660 | missense variant | C/G;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.810 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
1.000 | 0.080 | X | 150641410 | stop gained | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 1997 | 2001 |