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: 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: rs1557916296
rs1557916296 		1.000 0.040 1 151430822 missense variant C/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs772572695
rs772572695 		1.000 0.040 1 151406427 missense variant C/A;T snv 2.5E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs756691187
rs756691187 		1.000 0.040 1 151404993 missense variant C/G snv 8.0E-06 7.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1452048149
rs1452048149 		1.000 0.040 1 151404828 missense variant C/T snv 4.0E-06
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: rs753214391
rs753214391 		1.000 0.040 1 151406444 missense variant C/T snv 1.0E-05 2.1E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs754532606
rs754532606 		1.000 0.040 1 151423526 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs760059077
rs760059077 		1.000 0.040 1 151405919 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs763820362
rs763820362 		1.000 0.040 1 151424045 missense variant C/T snv 2.4E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs866632178
rs866632178 		1.000 0.040 1 151441000 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs888864913
rs888864913 		1.000 0.040 1 151424097 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs869320764
rs869320764 		1.000 0.160 1 151405578 frameshift variant CT/- del
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: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1854882
Disease: Absent speech
Absent speech 		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: C0036572
Disease: Seizures
Seizures 		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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
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