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: rs587777526
rs587777526 		0.925 0.160 20 50892557 stop gained G/A;C;T snv 2.0E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 11 2001 2017
dbSNP: rs587777526
rs587777526 		0.925 0.160 20 50892557 stop gained G/A;C;T snv 2.0E-05
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 1.000 2 2014 2014
dbSNP: rs1135401808
rs1135401808 		1.000 0.160 20 50892557 stop gained -/T 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: rs1555810193
rs1555810193 		1.000 0.160 20 50892997 frameshift variant C/- 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: rs1555810308
rs1555810308 		1.000 20 50893377 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
dbSNP: rs1555810376
rs1555810376 		1.000 0.160 20 50893491 frameshift variant TT/- 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: rs587777524
rs587777524 		1.000 0.160 20 50893503 stop gained G/A;C;T snv 4.0E-06
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: rs1568710501
rs1568710501 		1.000 0.160 20 50893981 stop gained C/A snv
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: rs1057518991
rs1057518991 		0.925 20 50894041 stop gained G/A snv
CUI: C1839707
Disease: AUTISM, SEVERE
AUTISM, SEVERE 		0.700 0
dbSNP: rs1057518991
rs1057518991 		0.925 20 50894041 stop gained G/A snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
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