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: rs1554196907
rs1554196907 		1.000 6 78961775 stop gained G/A snv
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1554212744
rs1554212744 		1.000 6 79060709 frameshift variant AA/- delins
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1562128924
rs1562128924 		1.000 6 78963185 stop gained A/C snv
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1562189451
rs1562189451 		1.000 6 79026060 stop gained A/C snv
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs878854421
rs878854421 		1.000 6 79025986 frameshift variant A/- delins
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1562203136
rs1562203136 		0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs1562203136
rs1562203136 		0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.700 0
dbSNP: rs1562203136
rs1562203136 		0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1562203136
rs1562203136 		0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1562203136
rs1562203136 		0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1562203136
rs1562203136 		0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1562203136
rs1562203136 		0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1562203136
rs1562203136 		0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1562203136
rs1562203136 		0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 0
dbSNP: rs1131691771
rs1131691771 		0.807 0.160 6 78958469 splice donor variant ACTT/- delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 0
dbSNP: rs1131691771
rs1131691771 		0.807 0.160 6 78958469 splice donor variant ACTT/- delins
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1131691771
rs1131691771 		0.807 0.160 6 78958469 splice donor variant ACTT/- delins
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.700 0