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: rs587777525
rs587777525 		1.000 0.160 20 50891906 frameshift variant G/- del
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: rs1555809836
rs1555809836 		20 50892215 frameshift variant T/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 11 2001 2017
dbSNP: rs587777523
rs587777523 		1.000 0.160 20 50892215 frameshift variant TTTA/- 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 1.000 1 2014 2014
dbSNP: rs587777522
rs587777522 		1.000 0.160 20 50892220 frameshift variant AATT/- 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 1.000 1 2014 2014
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
dbSNP: rs1057518978
rs1057518978 		1.000 0.160 20 50892395 frameshift variant -/T delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1057518978
rs1057518978 		1.000 0.160 20 50892395 frameshift variant -/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: rs1555809919
rs1555809919 		1.000 20 50892427 frameshift variant A/-;AA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
dbSNP: rs1555809919
rs1555809919 		1.000 20 50892427 frameshift variant A/-;AA delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 11 2001 2017
dbSNP: rs779340209
rs779340209 		20 50892501 stop gained G/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 11 2001 2017
dbSNP: rs1555809984
rs1555809984 		1.000 0.160 20 50892517 frameshift variant AACT/- 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: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 2001 2017
dbSNP: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
dbSNP: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/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: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.700 0
dbSNP: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		Mental Disorders 0.700 0
dbSNP: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 0
dbSNP: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587777526
rs587777526 		0.925 0.160 20 50892557 stop gained G/A;C;T snv 2.0E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017