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: rs1554385203
rs1554385203 		1.000 7 44241751 missense variant T/A snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.800 1.000 2 2017 2018
dbSNP: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/T snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.800 1.000 2 2017 2018
dbSNP: rs1554387293
rs1554387293 		1.000 7 44242618 missense variant G/A snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.800 1.000 2 2017 2018
dbSNP: rs1554389088
rs1554389088 		0.807 0.160 7 44243526 missense variant G/A snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.800 1.000 2 2017 2018
dbSNP: rs1554402092
rs1554402092 		1.000 7 44254555 missense variant C/T snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.800 1.000 2 2017 2018
dbSNP: rs1127065
rs1127065 		1.000 0.040 7 44220272 synonymous variant C/G;T snv 1.7E-02; 0.41
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs1554389088
rs1554389088 		0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2002 2017
dbSNP: rs1554385111
rs1554385111 		1.000 7 44241702 missense variant T/C snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.700 1.000 2 2017 2018
dbSNP: rs146929064
rs146929064 		1.000 0.080 7 44306737 intron variant A/C;G snv
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1554385305
rs1554385305 		0.925 0.040 7 44241784 splice acceptor variant C/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: rs1554385305
rs1554385305 		0.925 0.040 7 44241784 splice acceptor variant C/T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1554385305
rs1554385305 		0.925 0.040 7 44241784 splice acceptor variant C/T snv
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: rs1554385305
rs1554385305 		0.925 0.040 7 44241784 splice acceptor variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554385305
rs1554385305 		0.925 0.040 7 44241784 splice acceptor variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs1554385305
rs1554385305 		0.925 0.040 7 44241784 splice acceptor variant C/T snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2017 2017
dbSNP: rs1554385305
rs1554385305 		0.925 0.040 7 44241784 splice acceptor variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/T snv
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/T snv
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: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/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: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/T snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/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: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/T snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687 		0.882 0.040 7 44242328 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017