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: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1859200
Disease: Inability to walk by childhood/adolescence
Inability to walk by childhood/adolescence 		0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0024433
Disease: Macrostomia
Macrostomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1553213060
rs1553213060 		1.000 0.160 1 151406388 frameshift variant GT/- delins
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553213126
rs1553213126 		1.000 0.160 1 151406431 frameshift variant C/- delins
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1557863430
rs1557863430 		1.000 0.040 1 151405229 missense variant T/C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557863440
rs1557863440 		1.000 0.040 1 151405233 missense variant T/C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557863546
rs1557863546 		1.000 0.040 1 151405263 missense variant T/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557867134
rs1557867134 		1.000 0.160 1 151406229 stop gained C/A snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1557867853
rs1557867853 		1.000 0.040 1 151406330 missense variant G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557870645
rs1557870645 		1.000 0.040 1 151407271 missense variant C/T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557874046
rs1557874046 		1.000 0.040 1 151408807 missense variant T/G snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557878687
rs1557878687 		1.000 0.160 1 151411688 stop gained G/T snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1557901347
rs1557901347 		1.000 0.040 1 151424027 missense variant G/C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557902023
rs1557902023 		1.000 0.040 1 151424154 missense variant G/C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557909572
rs1557909572 		1.000 0.040 1 151427931 missense variant G/C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557909821
rs1557909821 		1.000 0.040 1 151427999 missense variant A/G snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0