rs1562150844, PHIP

N. diseases: 14
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 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
Convergence Insufficiency
CUI: C0271379
Disease: Convergence Insufficiency
4 0.790 0.280 6 78982908 frameshift variant CTTT/- 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 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
Impulsive Behavior
CUI: C0021125
Disease: Impulsive Behavior
69 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0