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: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
LEUKODYSTROPHY, HYPOMYELINATING, 12 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0740927
Disease: Elevated maternal serum alpha-fetoprotein
Elevated maternal serum alpha-fetoprotein 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
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: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		Cardiovascular Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		Eye Diseases; Nervous System Diseases 0.700 0