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 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Acid reflux
|
58 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Aggressive behavior
|
22 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Amblyopia
|
27 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Autistic Disorder
|
181 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Cafe-au-Lait Spots
|
32 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Childhood-onset truncal obesity
|
4 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Clinodactyly
|
16 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Constipation
|
49 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Delayed speech and language development
|
192 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
|
17 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Dysautonomia
|
9 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Hemangioma
|
15 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Large for gestational age
|
10 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Lethargy
|
5 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Mild Mental Retardation
|
48 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Myopia
|
104 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Neonatal Hypotonia
|
45 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Neurodevelopmental delay
|
24 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Pediatric failure to thrive
|
118 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Range of joint movement increased
|
46 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Recurrent infections
|
14 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Seizures
|
417 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
Syndactyly
|
13 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 |