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: rs1554121872
rs1554121872 		0.882 0.040 5 150250270 missense variant T/G snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.800 1.000 4 2015 2018
dbSNP: rs1554121875
rs1554121875 		0.882 0.040 5 150250281 missense variant T/C snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.800 1.000 4 2015 2018
dbSNP: rs1554122129
rs1554122129 		0.882 0.040 5 150252032 missense variant T/A snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.800 1.000 4 2015 2018
dbSNP: rs1554122526
rs1554122526 		0.882 0.040 5 150256811 missense variant A/G snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.800 1.000 4 2015 2018
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.800 0
dbSNP: rs864309606
rs864309606 		1.000 5 150250800 missense variant G/A snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.700 1.000 4 2015 2018
dbSNP: rs113331868
rs113331868 		5 150228191 splice donor variant C/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868 		5 150228191 splice donor variant C/A;T snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868 		5 150228191 splice donor variant C/A;T snv
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868 		5 150228191 splice donor variant C/A;T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868 		5 150228191 splice donor variant C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868 		5 150228191 splice donor variant C/A;T snv
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256 		0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256 		0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256 		0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256 		0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256 		0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256 		0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256 		0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256 		0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 1.000 1 2017 2017
dbSNP: rs1554119274
rs1554119274 		1.000 5 150223026 missense variant G/A snv
CUI: C4748167
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 		0.700 1.000 1 2018 2018
dbSNP: rs1554121872
rs1554121872 		0.882 0.040 5 150250270 missense variant T/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs1554121872
rs1554121872 		0.882 0.040 5 150250270 missense variant T/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554121872
rs1554121872 		0.882 0.040 5 150250270 missense variant T/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554121872
rs1554121872 		0.882 0.040 5 150250270 missense variant T/G snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 1.000 1 2017 2017