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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 10 | 129957300 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 10 | 129957300 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.120 | 10 | 129963375 | frameshift variant | TCTC/- | del |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.240 | 10 | 129957300 | missense variant | C/T | snv |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 10 | 129963375 | frameshift variant | TCTC/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 10 | 129877778 | missense variant | C/T | snv |
|
0.700 | 1.000 | 8 | 2009 | 2017 | ||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 0 |