SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
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: rs1382415023
rs1382415023 		1.000 21 33554945 frameshift variant GAAA/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 28 1988 2016
dbSNP: rs1382415023
rs1382415023 		1.000 21 33554945 frameshift variant GAAA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 28 1988 2016
dbSNP: rs1382415023
rs1382415023 		1.000 21 33554945 frameshift variant GAAA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177 		1.000 21 33554005 frameshift variant ACTC/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177 		1.000 21 33554005 frameshift variant ACTC/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177 		1.000 21 33554005 frameshift variant ACTC/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177 		1.000 21 33554005 frameshift variant ACTC/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 28 1988 2016
dbSNP: rs1555899242
rs1555899242 		1.000 21 33554269 stop gained G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 28 1988 2016
dbSNP: rs1555899242
rs1555899242 		1.000 21 33554269 stop gained G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 28 1988 2016
dbSNP: rs1555899379
rs1555899379 		1.000 21 33554726 stop gained CTG/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 28 1988 2016
dbSNP: rs1555899379
rs1555899379 		1.000 21 33554726 stop gained CTG/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 28 1988 2016
dbSNP: rs886039774
rs886039774 		21 33554777 frameshift variant GA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 28 1988 2016
dbSNP: rs7281554
rs7281554 		21 33556049 intron variant C/T snv 0.48
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1064796472
rs1064796472 		21 33552565 stop gained C/T snv
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1275312464
rs1275312464 		21 33552787 stop gained C/G;T snv 7.0E-06
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555898531
rs1555898531 		21 33551596 frameshift variant A/- del
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569050345
rs1569050345 		21 33549495 frameshift variant A/- delins
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569053308
rs1569053308 		21 33551112 frameshift variant AG/- del
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569055781
rs1569055781 		21 33552827 frameshift variant -/GC delins
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569056484
rs1569056484 		21 33553283 frameshift variant C/- delins
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569057333
rs1569057333 		21 33553778 frameshift variant -/G delins
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569058041
rs1569058041 		21 33554229 inframe deletion GATTTACCATCTAAT/- delins
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569059792
rs1569059792 		21 33555318 frameshift variant C/- del
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs769691894
rs769691894 		21 33553375 inframe deletion TGGAGCCTTCGGTTGTGACTGTCC/- delins 4.2E-05
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs778418096
rs778418096 		21 33549608 frameshift variant A/- delins
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0