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 | X | 154379485 | start lost | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.710 | 1.000 | 4 | 1994 | 2015 | ||||||||
|
0.925 | 0.120 | X | 154379485 | start lost | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | X | 154379485 | start lost | A/G | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | X | 154379485 | start lost | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | X | 154379496 | stop gained | C/G;T | snv | 1.7E-05 | 6.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | X | 154379500 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 154379544 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 154379567 | splice donor variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.925 | 0.120 | X | 154379567 | splice donor variant | G/T | snv |
|
0.700 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
X | 154379688 | splice acceptor variant | A/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 1995 | 2007 | ||||||||||
|
1.000 | 0.120 | X | 154379707 | stop gained | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
X | 154379710 | stop gained | G/A;T | snv | 2.3E-05; 1.1E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.120 | X | 154379730 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 154379737 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 154379740 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 154379754 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
0.925 | 0.160 | X | 154379790 | frameshift variant | -/T | delins |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 154379790 | frameshift variant | -/T | delins |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 154379790 | frameshift variant | -/T | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 154379968 | frameshift variant | -/AT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
X | 154380232 | splice acceptor variant | A/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 6 | 1975 | 1999 | ||||||||||
|
1.000 | 0.080 | X | 154380781 | missense variant | C/T | snv | 2.1E-04 | 2.0E-04 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1.000 | 0.080 | X | 154380781 | missense variant | C/T | snv | 2.1E-04 | 2.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1.000 | 0.120 | X | 154380783 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 1996 | 2011 | ||||||||
|
X | 154380798 | missense variant | G/C | snv | 4.6E-04 | 2.1E-04 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |