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: rs1114167303
rs1114167303 		0.925 0.120 21 33553079 frameshift variant GGTAT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1114167303
rs1114167303 		0.925 0.120 21 33553079 frameshift variant GGTAT/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs3174808
rs3174808 		1.000 0.040 21 33573415 missense variant T/A;C snv 4.0E-06; 0.32
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
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: rs886039773
rs886039773 		0.925 0.120 21 33554982 frameshift variant TTAG/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs886039773
rs886039773 		0.925 0.120 21 33554982 frameshift variant TTAG/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs886039777
rs886039777 		0.925 0.120 21 33549517 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs886039777
rs886039777 		0.925 0.120 21 33549517 stop gained C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs886039778
rs886039778 		0.925 0.120 21 33552303 frameshift variant -/A delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs886039778
rs886039778 		0.925 0.120 21 33552303 frameshift variant -/A delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs886039779
rs886039779 		0.925 0.120 21 33557227 frameshift variant C/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs886039779
rs886039779 		0.925 0.120 21 33557227 frameshift variant C/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2016 2016
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