ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
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: rs1554226131
rs1554226131 		1.000 6 157148899 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554226131
rs1554226131 		1.000 6 157148899 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 1984 2017
dbSNP: rs1554232959
rs1554232959 		1.000 0.280 6 157189721 frameshift variant -/A delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554265275
rs1554265275 		1.000 0.280 6 156901439 stop gained -/A delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519009
rs1057519009 		1.000 0.280 6 157181118 frameshift variant -/AA delins
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554294698
rs1554294698 		1.000 0.280 6 157084879 frameshift variant -/C delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554237992
rs1554237992 		1.000 0.280 6 157207393 stop gained -/CCCTCTGTAAACTCAGTATCCAGGACAA delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554236054
rs1554236054 		1.000 6 157201481 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054 		1.000 6 157201481 frameshift variant -/G delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054 		1.000 6 157201481 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554265319
rs1554265319 		1.000 0.280 6 156901497 frameshift variant -/G delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554301230
rs1554301230 		1.000 0.280 6 157133116 frameshift variant -/G delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs797045279
rs797045279 		1.000 0.280 6 157206196 frameshift variant -/T delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs879253746
rs879253746 		0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs879253746
rs879253746 		0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs879253746
rs879253746 		0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		0.700 0
dbSNP: rs879253746
rs879253746 		0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.700 0
dbSNP: rs879253746
rs879253746 		0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs879253746
rs879253746 		0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.700 0
dbSNP: rs1554237050
rs1554237050 		6 157206240 frameshift variant A/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 1984 2017
dbSNP: rs1562347066
rs1562347066 		1.000 0.280 6 157201483 frameshift variant A/- del
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1562354784
rs1562354784 		0.925 0.280 6 157207612 frameshift variant A/- delins
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1562354784
rs1562354784 		0.925 0.280 6 157207612 frameshift variant A/- delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs797045281
rs797045281 		1.000 0.280 6 157206293 frameshift variant A/- delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1562350940
rs1562350940 		1.000 0.280 6 157206165 splice acceptor variant A/C snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0