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: rs869320764
rs869320764 		1.000 0.160 1 151405578 frameshift variant CT/- del
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 0
dbSNP: rs1553212626
rs1553212626 		1.000 1 151406151 frameshift variant -/A delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1999 2017
dbSNP: rs1553212626
rs1553212626 		1.000 1 151406151 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs1553212626
rs1553212626 		1.000 1 151406151 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1999 2017
dbSNP: rs1553212978
rs1553212978 		1.000 1 151406322 frameshift variant -/T delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs1553212978
rs1553212978 		1.000 1 151406322 frameshift variant -/T delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1999 2017
dbSNP: rs1553212978
rs1553212978 		1.000 1 151406322 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1999 2017
dbSNP: rs864321671
rs864321671 		1.000 0.160 1 151408151 frameshift variant AGAG/- delins
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: rs864321672
rs864321672 		1.000 0.160 1 151406271 frameshift variant -/G delins
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: rs864321675
rs864321675 		1.000 0.160 1 151406254 frameshift variant -/A delins
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
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 0
dbSNP: rs1553212374
rs1553212374 		1.000 0.160 1 151405828 frameshift variant TA/- delins
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 0
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