rs1554210073, PHIP

N. diseases: 21
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 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.752 0.320 6 79042844 frameshift variant GT/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 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Impulsive Behavior
CUI: C0021125
Disease: Impulsive Behavior
69 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
recurrent muscle twitches (symptom)
CUI: C2169806
Disease: recurrent muscle twitches (symptom)
7 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Recurrent urinary tract infection
CUI: C0262655
Disease: Recurrent urinary tract infection
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
Upper limb hypertonia
CUI: C4021898
Disease: Upper limb hypertonia
4 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0