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: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		0.700 0
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555639411
rs1555639411 		0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		0.700 0
dbSNP: rs1555652383
rs1555652383 		0.807 0.160 17 67912720 frameshift variant TG/- delins
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		0.700 0
dbSNP: rs1555693714
rs1555693714 		0.882 0.120 17 67975933 stop gained A/T snv
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		0.700 0
dbSNP: rs1568070621
rs1568070621 		1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1568070621
rs1568070621 		1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1568070621
rs1568070621 		1.000 0.040 17 67918746 frameshift variant AG/- delins
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: rs1568070621
rs1568070621 		1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0086437
Disease: Joint laxity
Joint laxity 		Musculoskeletal Diseases 0.700 0
dbSNP: rs782736894
rs782736894 		0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		0.700 0
dbSNP: rs12602912
rs12602912 		1.000 0.040 17 67873957 intron variant C/G;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs60432162
rs60432162 		17 67884422 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs60432162
rs60432162 		17 67884422 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT delins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs753044214
rs753044214 		1.000 17 67903835 frameshift variant A/-;AA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1995 2017
dbSNP: rs753044214
rs753044214 		1.000 17 67903835 frameshift variant A/-;AA delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 19 1995 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0344541
Disease: Persistent pupillary membranes
Persistent pupillary membranes 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C1839798
Disease: Long nose
Long nose 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017