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: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1859200
Disease: Inability to walk by childhood/adolescence
Inability to walk by childhood/adolescence 		0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0024433
Disease: Macrostomia
Macrostomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs864321674
rs864321674 		0.925 0.160 1 151406100 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1999 2017
dbSNP: rs864321674
rs864321674 		0.925 0.160 1 151406100 stop gained G/A snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2015 2016
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		0.700 0
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0