Disease | N. SNPs d | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AFEXOME | AFGENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Abnormal fear/anxiety-related behavior
|
7 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Aggressive behavior
|
22 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Amblyopia
|
27 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Astigmatism
|
43 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Attention deficit hyperactivity disorder
|
208 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Autistic Disorder
|
181 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Clinodactyly
|
16 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Constipation
|
49 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Delayed speech and language development
|
192 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
|
17 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Exotropia
|
21 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Feeding difficulties in infancy
|
22 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Flatfoot
|
38 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Generalized hypotonia
|
164 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Impulsive Behavior
|
10 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Mild Mental Retardation
|
48 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Myopia
|
104 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Neurodevelopmental delay
|
24 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
recurrent muscle twitches (symptom)
|
3 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Recurrent urinary tract infection
|
8 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | |||||||||
Upper limb hypertonia
|
4 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 |