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: rs1555639411
rs1555639411 		0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411 		0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411 		0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411 		0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411 		0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411 		0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411 		0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland 		0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411 		0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411 		0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411 		0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		0.700 0
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		Musculoskeletal Diseases; Wounds and Injuries 0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0426415
Disease: Large nose
Large nose 		0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
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 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0423113
Disease: Telecanthus
Telecanthus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0575802
Disease: Small hand
Small hand 		0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017