SATB2, SATB homeobox 2, 23314

N. diseases: 233; N. variants: 38
Disease: Chromosome 2q32-Q33 Deletion Syndrome ×
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: rs137853127
rs137853127 		1.000 0.200 2 199349159 stop gained G/A snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2007 2014
dbSNP: rs797044874
rs797044874 		0.925 0.200 2 199349027 stop gained G/A snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2015 2015
dbSNP: rs1057521083
rs1057521083 		0.925 0.200 2 199348709 missense variant G/A snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1559135904
rs1559135904 		1.000 0.200 2 199272339 stop gained C/A snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1057518190
rs1057518190 		1.000 0.200 2 199328888 missense variant C/G;T snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1064795530
rs1064795530 		1.000 0.200 2 199308804 missense variant C/T snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1135401803
rs1135401803 		1.000 0.200 2 199308873 frameshift variant G/- del
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553538919
rs1553538919 		1.000 0.200 2 199272449 missense variant G/A snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553544158
rs1553544158 		1.000 0.200 2 199308907 frameshift variant -/T delins
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553544187
rs1553544187 		1.000 0.200 2 199308957 missense variant C/T snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553547838
rs1553547838 		0.925 0.280 2 199328709 stop gained G/A snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1558995207
rs1558995207 		1.000 0.200 2 199349126 stop gained G/A snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559016679
rs1559016679 		1.000 0.200 2 199380363 splice donor variant C/T snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559052017
rs1559052017 		1.000 0.200 2 199433336 splice donor variant A/C snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559052032
rs1559052032 		1.000 0.200 2 199433341 stop gained G/A snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559136015
rs1559136015 		1.000 0.200 2 199272394 frameshift variant -/T delins
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559136052
rs1559136052 		1.000 0.200 2 199272467 frameshift variant -/A delins
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559164403
rs1559164403 		1.000 0.200 2 199328898 missense variant C/G snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559174813
rs1559174813 		1.000 0.200 2 199348703 stop gained G/A snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559174854
rs1559174854 		1.000 0.200 2 199348732 missense variant A/C snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs863224917
rs863224917 		1.000 0.200 2 199348705 missense variant G/A snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs875989830
rs875989830 		0.925 0.200 2 199348742 frameshift variant AC/- delins
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs878853163
rs878853163 		0.925 0.200 2 199323850 stop gained T/A;C snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886041516
rs886041516 		1.000 0.200 2 199328798 missense variant C/T snv 7.0E-06
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886041847
rs886041847 		1.000 0.200 2 199328799 stop gained G/A;T snv
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0