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: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0014877
Disease: Esotropia
Esotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0016202
Disease: Flatfoot
Flatfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C4025678
Disease: Abnormal trachea morphology
Abnormal trachea morphology 		0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0266298
Disease: Accessory kidney
Accessory kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C1834042
Disease: Hypoplasia of facial musculature
Hypoplasia of facial musculature 		0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518978
rs1057518978 		1.000 0.160 20 50892395 frameshift variant -/T delins
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0