Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C0271379
Disease: Convergence Insufficiency
Convergence Insufficiency 		0.700 0