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: rs1553996876
rs1553996876 		4 139359896 splice donor variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2003 2018
dbSNP: rs1274633498
rs1274633498 		1.000 4 139341049 stop gained C/T snv 7.0E-06
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		0.700 0
dbSNP: rs1380822792
rs1380822792 		0.882 0.080 4 139336933 frameshift variant CTTGA/- delins
CUI: C1696701
Disease: Skin-picking
Skin-picking 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1380822792
rs1380822792 		0.882 0.080 4 139336933 frameshift variant CTTGA/- delins
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1380822792
rs1380822792 		0.882 0.080 4 139336933 frameshift variant CTTGA/- delins
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1380822792
rs1380822792 		0.882 0.080 4 139336933 frameshift variant CTTGA/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs1380822792
rs1380822792 		0.882 0.080 4 139336933 frameshift variant CTTGA/- delins
CUI: C0424375
Disease: Biting self
Biting self 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1380822792
rs1380822792 		0.882 0.080 4 139336933 frameshift variant CTTGA/- delins
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		0.700 0
dbSNP: rs1380822792
rs1380822792 		0.882 0.080 4 139336933 frameshift variant CTTGA/- delins
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		Mental Disorders 0.700 0
dbSNP: rs1436993876
rs1436993876 		1.000 4 139359833 missense variant A/G snv 4.1E-06
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		0.700 0
dbSNP: rs1553994814
rs1553994814 		1.000 4 139336870 frameshift variant A/- delins
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		0.700 0
dbSNP: rs1553996072
rs1553996072 		1.000 4 139351510 stop gained A/T snv
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		0.700 0
dbSNP: rs1553996086
rs1553996086 		1.000 4 139351603 frameshift variant GAAA/- delins
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		0.700 0
dbSNP: rs1553997065
rs1553997065 		1.000 4 139361879 stop gained T/A snv
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		0.700 0
dbSNP: rs1553998565
rs1553998565 		1.000 4 139378785 stop gained A/T snv
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		0.700 0
dbSNP: rs202204424
rs202204424 		1.000 4 139360513 missense variant C/T snv 8.7E-06 7.0E-06
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		0.700 0
dbSNP: rs779009256
rs779009256 		1.000 4 139336947 frameshift variant AT/- del 4.3E-06 1.4E-05
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		0.700 0
dbSNP: rs886041097
rs886041097 		0.882 0.160 4 139386152 stop gained C/G snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886041097
rs886041097 		0.882 0.160 4 139386152 stop gained C/G snv
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: rs886041097
rs886041097 		0.882 0.160 4 139386152 stop gained C/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs886041097
rs886041097 		0.882 0.160 4 139386152 stop gained C/G snv
CUI: C1834433
Disease: Obsessive-compulsive trait
Obsessive-compulsive trait 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886041097
rs886041097 		0.882 0.160 4 139386152 stop gained C/G snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886041097
rs886041097 		0.882 0.160 4 139386152 stop gained C/G snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886041097
rs886041097 		0.882 0.160 4 139386152 stop gained C/G snv
CUI: C1303003
Disease: Epicanthus inversus
Epicanthus inversus 		0.700 0
dbSNP: rs886041097
rs886041097 		0.882 0.160 4 139386152 stop gained C/G snv
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		0.700 0