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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 46116378 | missense variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 10 | 2002 | 2015 | ||||||||||
|
1.000 | 21 | 46116768 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 10 | 2002 | 2015 | ||||||||||
|
1.000 | 21 | 46116768 | splice acceptor variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||||||
|
1.000 | 0.120 | 21 | 46115881 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 5 | 1996 | 2010 | ||||||||
|
0.882 | 0.160 | 21 | 46115917 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1993 | 2013 | ||||||||
|
1.000 | 0.120 | 21 | 46116010 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1993 | 2013 | ||||||||
|
0.925 | 0.160 | 21 | 46125776 | intron variant | G/A | snv | 1.1E-04 | 7.7E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 2009 | 2015 | ||||||
|
1.000 | 0.120 | 21 | 46117398 | splice acceptor variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2007 | 2010 | ||||||||
|
1.000 | 0.160 | 21 | 46132118 | missense variant | C/A;G;T | snv | 5.2E-06; 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.810 | 1.000 | 4 | 2005 | 2010 | |||||||
|
1.000 | 0.120 | 21 | 46116027 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 1994 | 2013 | ||||||||
|
1.000 | 0.120 | 21 | 46125913 | missense variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 1996 | 2007 | |||||||
|
1.000 | 0.120 | 21 | 46121593 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 1994 | 2013 | ||||||
|
1.000 | 0.120 | 21 | 46132064 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2009 | 2015 | ||||||||
|
1.000 | 0.120 | 21 | 46115909 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 1994 | 2013 | ||||||||
|
1.000 | 0.120 | 21 | 46125509 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 3 | 2002 | 2010 | ||||||||
|
0.925 | 0.120 | 21 | 46117916 | stop gained | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2009 | 2014 | |||||||
|
1.000 | 0.120 | 21 | 46114074 | splice donor variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2008 | 2010 | ||||||||
|
1.000 | 0.120 | 21 | 46115918 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 1994 | 2013 | ||||||||
|
1.000 | 0.160 | 21 | 46126166 | missense variant | G/A;C | snv | 4.4E-03 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2005 | 2005 | |||||||
|
1.000 | 0.120 | 21 | 46117872 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
21 | 46127560 | intron variant | G/A | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
21 | 46129449 | missense variant | G/C;T | snv | 3.6E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
21 | 46122306 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.160 | 21 | 46126144 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 21 | 46131980 | missense variant | C/T | snv | 3.4E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 |