Source: ALL
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
CUI: C4317146
Disease: Acid reflux
58 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Childhood-onset truncal obesity
CUI: C1859846
Disease: Childhood-onset truncal obesity
4 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 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
CUI: C0013363
Disease: Dysautonomia
18 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Large for gestational age
CUI: C1848395
Disease: Large for gestational age
10 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Lethargy
CUI: C0023380
Disease: Lethargy
6 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Recurrent infections
CUI: C0239998
Disease: Recurrent infections
14 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0