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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 119223937 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 119212608 | intron variant | A/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 119260224 | intron variant | TT/-;T;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 119206293 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.080 | 11 | 119278182 | missense variant | A/C;G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.080 | 11 | 119278182 | missense variant | A/C;G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.080 | 11 | 119278182 | missense variant | A/C;G | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.080 | 11 | 119278182 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.080 | 11 | 119278182 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 |