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: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C4023678
Disease: Monocular strabismus
Monocular strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0026034
Disease: Microstomia
Microstomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
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: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0003079
Disease: Anisocoria
Anisocoria 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		0.700 0
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs4391701
rs4391701 		1 153825652 intron variant C/T snv 0.27
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018