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
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
7 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Blindness
CUI: C0456909
Disease: Blindness
34 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Childhood-onset truncal obesity
CUI: C1859846
Disease: Childhood-onset truncal obesity
4 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Chorea
CUI: C0008489
Disease: Chorea
20 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
17 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Obsessive compulsive behavior
CUI: C0600104
Disease: Obsessive compulsive behavior
16 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Recurrent infections
CUI: C0239998
Disease: Recurrent infections
14 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0