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: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0019572
Disease: Hirsutism
Hirsutism 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C1848453
Disease: Poor motor coordination
Poor motor coordination 		0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C4023491
Disease: Interictal epileptiform activity
Interictal epileptiform activity 		0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		Digestive System Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0086649
Disease: MPS III C
MPS III C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0542223
Disease: Loss of speech
Loss of speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		Pathological Conditions, Signs and Symptoms; Mental Disorders 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		Nervous System Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
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: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0424296
Disease: Social disinhibition
Social disinhibition 		Mental Disorders 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		Mental Disorders 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0474420
Disease: Inappropriate sexual behavior
Inappropriate sexual behavior 		0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0085632
Disease: Apathy
Apathy 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		Mental Disorders 0.700 0