Source: CURATED ×
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
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: 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: 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: 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: 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: 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: 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: rs12480328
rs12480328 		1.000 0.080 20 50911385 intron variant T/A;C;G snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 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: 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: 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: 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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 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: 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: 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: 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: 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: 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: 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