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: rs768324201
rs768324201 		1.000 6 79060680 missense variant G/A;T snv
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.800 1.000 3 2012 2018
dbSNP: rs878854420
rs878854420 		1.000 6 79077904 missense variant A/G snv
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.800 1.000 3 2012 2018
dbSNP: rs10455120
rs10455120 		6 79070050 intron variant T/G snv 0.23
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs10943605
rs10943605 		6 78945760 3 prime UTR variant G/A snv 0.44
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs2050663
rs2050663 		6 79043677 intron variant T/C snv 0.45
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs2050663
rs2050663 		6 79043677 intron variant T/C snv 0.45
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs6454092
rs6454092 		6 78992255 intron variant G/A snv 0.44
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs9343861
rs9343861 		6 79035151 intron variant C/A snv 0.32
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0271379
Disease: Convergence Insufficiency
Convergence Insufficiency 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0949173
Disease: Delayed menarche
Delayed menarche 		Endocrine System Diseases 0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0040953
Disease: Trichotillomania
Trichotillomania 		Mental Disorders 0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C2169806
Disease: recurrent muscle twitches (symptom)
recurrent muscle twitches (symptom) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.700 0
dbSNP: rs1085307845
rs1085307845 		0.752 0.320 6 79025582 missense variant G/T snv
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.700 0