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.
Conductive hearing loss
CUI: C0018777
Disease: Conductive hearing loss
5 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Macrocephaly at birth
CUI: C1836599
Disease: Macrocephaly at birth
6 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Abnormal fear/anxiety-related behavior
7 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Large for gestational age
CUI: C1848395
Disease: Large for gestational age
10 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Recurrent infections
CUI: C0239998
Disease: Recurrent infections
14 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
17 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Impulsive Behavior
CUI: C0021125
Disease: Impulsive Behavior
69 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Delayed speech and language development
192 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
297 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
Attention deficit hyperactivity disorder
420 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0