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 | 2 | 237333533 | missense variant | G/A;C | snv | 1.2E-05; 8.2E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
2 | 237369499 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 2 | 237344516 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 2 | 237334727 | missense variant | C/T | snv | 1.1E-03 | 3.6E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
2 | 237428159 | upstream gene variant | T/C;G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 237414242 | upstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.882 | 0.160 | 2 | 237395121 | stop gained | G/A | snv | 4.4E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 2 | 237361120 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 2 | 237372173 | missense variant | C/T | snv | 2.0E-04 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 2 | 237342163 | splice acceptor variant | T/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 2 | 237334890 | splice acceptor variant | C/G | snv | 1.6E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 2 | 237344358 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 237369064 | missense variant | T/C | snv | 5.1E-04 | 3.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1998 | 2010 | ||||||
|
1.000 | 0.120 | 2 | 237379103 | missense variant | C/A;T | snv | 8.0E-06; 1.5E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1998 | 2010 | |||||||
|
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 | 237336278 | missense variant | G/A | snv | 3.9E-03 | 1.4E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 1998 | 2007 | ||||||
|
1.000 | 0.120 | 2 | 237371861 | missense variant | C/T | snv | 6.2E-03 | 5.9E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 1998 | 2007 | ||||||
|
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 |