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 | 0.120 | 2 | 237359205 | splice donor variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 13 | 2001 | 2016 | ||||||||
|
1.000 | 0.120 | 2 | 237361138 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1994 | 2017 | ||||||||
|
1.000 | 0.120 | 2 | 237360158 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1993 | 2013 | ||||||||
|
1.000 | 0.120 | 2 | 237360150 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1994 | 2013 | ||||||||
|
1.000 | 0.120 | 2 | 237359205 | splice donor variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2005 | 2017 | ||||||||
|
1.000 | 0.120 | 2 | 237380914 | splice donor variant | C/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2005 | 2010 | |||||||
|
1.000 | 0.120 | 2 | 237350173 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 1994 | 2013 | |||||||
|
1.000 | 0.120 | 2 | 237359235 | splice acceptor variant | TTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2005 | 2010 | ||||||||
|
1.000 | 0.120 | 2 | 237360140 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 1994 | 2013 | ||||||||
|
1.000 | 0.120 | 2 | 237359252 | splice acceptor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2005 | 2010 | ||||||||
|
0.925 | 0.160 | 2 | 237359361 | splice donor variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2007 | 2013 | ||||||||
|
0.882 | 0.160 | 2 | 237361120 | splice donor variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2005 | 2009 | ||||||||
|
0.827 | 0.120 | 2 | 237331726 | intron variant | A/T | snv | 0.60 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 2 | 237331726 | intron variant | A/T | snv | 0.60 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 2 | 237331726 | intron variant | A/T | snv | 0.60 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 2 | 237331726 | intron variant | A/T | snv | 0.60 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 2 | 237331726 | intron variant | A/T | snv | 0.60 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 2 | 237331726 | intron variant | A/T | snv | 0.60 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 2 | 237367010 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 2 | 237365697 | splice donor variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
2 | 237369499 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.080 | 2 | 237361902 | intron variant | T/C | snv | 6.2E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 2 | 237361902 | intron variant | T/C | snv | 6.2E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 2 | 237361902 | intron variant | T/C | snv | 6.2E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.160 | 2 | 237361120 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 |