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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | X | 31180437 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | X | 31182784 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
X | 32287680 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.120 | X | 32545158 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 32343221 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
X | 32343174 | stop gained | A/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 |
|
Mental Disorders | 0.700 | 0 | ||||||||||||
|
X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||||
|
X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||||
|
X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 |
|
0.700 | 0 | |||||||||||||
|
X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 |
|
0.700 | 0 | |||||||||||||
|
X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 31206610 | stop gained | A/G;T | snv | 5.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | X | 31496944 | splice acceptor variant | CC/TT | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 |