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: rs1554526454
rs1554526454 		1.000 0.120 8 43140504 frameshift variant -/CG delins
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: rs1554531744
rs1554531744 		1.000 0.120 8 43170691 splice donor variant G/- delins
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: rs1554532283
rs1554532283 		1.000 0.120 8 43173744 splice donor variant G/A;T 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: rs1554537612
rs1554537612 		1.000 0.120 8 43197026 splice donor variant G/A;C 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: rs1554537613
rs1554537613 		1.000 0.120 8 43197027 splice donor variant T/G 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: rs1554537807
rs1554537807 		1.000 0.120 8 43197838 splice acceptor variant A/T 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: rs193066451
rs193066451 		0.882 0.120 8 43159045 splice donor variant G/A snv 4.0E-05 1.3E-04
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		Infections; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0233794
Disease: Memory impairment
Memory impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
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