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 | 0.280 | 6 | 157206971 | stop gained | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.280 | 6 | 156777946 | missense variant | G/A | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
1.000 | 0.280 | 6 | 157189781 | splice donor variant | G/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.280 | 6 | 157203997 | splice donor variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 6 | 157207497 | frameshift variant | T/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.280 | 6 | 157181118 | frameshift variant | -/AA | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.280 | 6 | 156829419 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
6 | 156924099 | intron variant | T/C | snv | 3.6E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.280 | 6 | 157174077 | frameshift variant | CAAAG/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
6 | 156807123 | intron variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 156807123 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 156891736 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.724 | 0.240 | 6 | 156778678 | missense variant | C/G | snv | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.040 | 1.000 | 4 | 2006 | 2019 | |||||||
|
0.724 | 0.240 | 6 | 156778678 | missense variant | C/G | snv | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.030 | 1.000 | 3 | 2001 | 2012 |