Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity 		0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		Nervous System Diseases 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0002418
Disease: Amblyopia
Amblyopia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0023380
Disease: Lethargy
Lethargy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1562127631
rs1562127631 		0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0039075
Disease: Syndactyly
Syndactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0271379
Disease: Convergence Insufficiency
Convergence Insufficiency 		Eye Diseases; Nervous System Diseases 0.700 0