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: rs1057518352
rs1057518352 		1.000 0.160 6 33432787 stop gained C/T snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057518786
rs1057518786 		1.000 6 33441374 splice region variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518786
rs1057518786 		1.000 6 33441374 splice region variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518786
rs1057518786 		1.000 6 33441374 splice region variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057518786
rs1057518786 		1.000 6 33441374 splice region variant G/A snv
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		0.700 0
dbSNP: rs1057518786
rs1057518786 		1.000 6 33441374 splice region variant G/A snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		Mental Disorders 0.700 0
dbSNP: rs1057518796
rs1057518796 		1.000 6 33443751 frameshift variant C/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518796
rs1057518796 		1.000 6 33443751 frameshift variant C/- delins
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518796
rs1057518796 		1.000 6 33443751 frameshift variant C/- delins
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057519400
rs1057519400 		1.000 0.160 6 33440958 frameshift variant TT/- delins
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519400
rs1057519400 		1.000 0.160 6 33440958 frameshift variant TT/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519405
rs1057519405 		1.000 0.160 6 33440735 frameshift variant C/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519405
rs1057519405 		1.000 0.160 6 33440735 frameshift variant C/- delins
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519545
rs1057519545 		1.000 0.040 6 33435225 missense variant G/C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519546
rs1057519546 		1.000 0.160 6 33432806 missense variant G/A snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060503378
rs1060503378 		1.000 0.160 6 33438072 frameshift variant AG/- del
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060503383
rs1060503383 		0.882 0.200 6 33441318 stop gained C/T snv
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1060503383
rs1060503383 		0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1060503383
rs1060503383 		0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060503383
rs1060503383 		0.882 0.200 6 33441318 stop gained C/T snv
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 0
dbSNP: rs1060503383
rs1060503383 		0.882 0.200 6 33441318 stop gained C/T snv
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.700 0
dbSNP: rs1060503383
rs1060503383 		0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0
dbSNP: rs1060503383
rs1060503383 		0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0239676
Disease: High forehead
High forehead 		0.700 0
dbSNP: rs1060503383
rs1060503383 		0.882 0.200 6 33441318 stop gained C/T snv
CUI: C4025747
Disease: Bulbous tips of toes
Bulbous tips of toes 		0.700 0
dbSNP: rs1060503383
rs1060503383 		0.882 0.200 6 33441318 stop gained C/T snv
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 0.700 0