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: rs1057519509
rs1057519509 		1.000 3 9739507 missense variant C/T snv
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.800 0
dbSNP: rs1057519515
rs1057519515 		1.000 3 9739564 missense variant T/C snv
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.800 0
dbSNP: rs1553693712
rs1553693712 		1.000 3 9734167 frameshift variant TT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 2 2017 2017
dbSNP: rs1553693712
rs1553693712 		1.000 3 9734167 frameshift variant TT/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2017 2017
dbSNP: rs762904815
rs762904815 		1.000 3 9744394 frameshift variant C/-;CC;CCC delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 2 2017 2017
dbSNP: rs762904815
rs762904815 		1.000 3 9744394 frameshift variant C/-;CC;CCC delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 2 2017 2017
dbSNP: rs762904815
rs762904815 		1.000 3 9744394 frameshift variant C/-;CC;CCC delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2017 2017
dbSNP: rs1057519510
rs1057519510 		1.000 3 9739762 stop gained C/T snv
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0
dbSNP: rs1057519511
rs1057519511 		1.000 3 9734500 frameshift variant AG/- delins
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		Mental Disorders 0.700 0
dbSNP: rs1057519511
rs1057519511 		1.000 3 9734500 frameshift variant AG/- delins
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0
dbSNP: rs1057519512
rs1057519512 		1.000 3 9743763 stop gained C/T snv 7.0E-06
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0
dbSNP: rs1057519513
rs1057519513 		1.000 3 9745904 stop gained C/T snv 4.0E-06
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0
dbSNP: rs1057519514
rs1057519514 		1.000 3 9745069 stop gained C/G snv
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0
dbSNP: rs1057519516
rs1057519516 		1.000 3 9734707 frameshift variant T/- del
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0
dbSNP: rs1057519517
rs1057519517 		1.000 3 9734243 stop gained -/A delins
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0
dbSNP: rs1553695017
rs1553695017 		1.000 3 9739303 stop gained C/T snv
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0
dbSNP: rs1553697341
rs1553697341 		1.000 3 9746430 inframe deletion CTT/- delins
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0
dbSNP: rs1559662068
rs1559662068 		0.925 3 9741340 frameshift variant AG/T delins
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs1559662068
rs1559662068 		0.925 3 9741340 frameshift variant AG/T delins
CUI: C1857479
Disease: Short columella
Short columella 		0.700 0
dbSNP: rs1559662068
rs1559662068 		0.925 3 9741340 frameshift variant AG/T delins
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1559662068
rs1559662068 		0.925 3 9741340 frameshift variant AG/T delins
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs1559662068
rs1559662068 		0.925 3 9741340 frameshift variant AG/T delins
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1559662068
rs1559662068 		0.925 3 9741340 frameshift variant AG/T delins
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		Eye Diseases 0.700 0
dbSNP: rs1559662068
rs1559662068 		0.925 3 9741340 frameshift variant AG/T delins
CUI: C0264306
Disease: Laryngeal Obstruction
Laryngeal Obstruction 		Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1559662068
rs1559662068 		0.925 3 9741340 frameshift variant AG/T delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0