MUSK, muscle associated receptor tyrosine kinase, 4593
N. diseases: 146; N. variants: 16
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 9 | 110785664 | missense variant | T/A;C | snv | 4.0E-06; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 0 | ||||||||||
|
1.000 | 0.040 | 9 | 110800743 | missense variant | G/A | snv |
|
Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 9 | 110800743 | missense variant | G/A | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 9 | 110800743 | missense variant | G/A | snv |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 9 | 110800743 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 110800735 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 110668985 | splice donor variant | T/G | snv | 4.0E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 9 | 110695418 | missense variant | G/A;T | snv | 8.5E-05; 4.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 9 | 110687218 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 9 | 110687218 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 9 | 110687218 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 9 | 110687218 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 9 | 110785664 | missense variant | T/A;C | snv | 4.0E-06; 1.6E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 9 | 110785664 | missense variant | T/A;C | snv | 4.0E-06; 1.6E-05 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 9 | 110785664 | missense variant | T/A;C | snv | 4.0E-06; 1.6E-05 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 9 | 110785664 | missense variant | T/A;C | snv | 4.0E-06; 1.6E-05 |
|
Mental Disorders | 0.700 | 0 | ||||||||||
|
1.000 | 9 | 110800760 | missense variant | G/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
1.000 | 9 | 110800760 | missense variant | G/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 9 | 110800760 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 9 | 110668943 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 9 | 110687127 | frameshift variant | -/C | delins |
|
0.700 | 0 | |||||||||||||
|
9 | 110672097 | intron variant | G/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.120 | 9 | 110800531 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.882 | 0.120 | 9 | 110800531 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.882 | 0.120 | 9 | 110800531 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |