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: rs747240928
rs747240928 		1.000 0.120 8 43196999 stop gained C/T snv 1.2E-05 7.0E-06
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 1.000 3 2006 2015
dbSNP: rs121908282
rs121908282 		0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 1.000 2 2009 2010
dbSNP: rs121908282
rs121908282 		0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05
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 1.000 2 2009 2010
dbSNP: rs1563366896
rs1563366896 		0.882 0.120 8 43169216 stop gained C/T snv
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2008 2015
dbSNP: rs1057518644
rs1057518644 		0.925 0.120 8 43192413 stop gained C/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 1.000 1 2017 2017
dbSNP: rs121908282
rs121908282 		0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1563366896
rs1563366896 		0.882 0.120 8 43169216 stop gained C/T snv
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 1.000 1 2008 2008
dbSNP: rs1563366896
rs1563366896 		0.882 0.120 8 43169216 stop gained C/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 1.000 1 2008 2008
dbSNP: rs1057518644
rs1057518644 		0.925 0.120 8 43192413 stop gained C/T snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518644
rs1057518644 		0.925 0.120 8 43192413 stop gained C/T snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518644
rs1057518644 		0.925 0.120 8 43192413 stop gained C/T snv
CUI: C1832451
Disease: Cranial hyperostosis
Cranial hyperostosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518644
rs1057518644 		0.925 0.120 8 43192413 stop gained C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1057518644
rs1057518644 		0.925 0.120 8 43192413 stop gained C/T snv
CUI: C1850041
Disease: Facial hirsutism
Facial hirsutism 		0.700 0
dbSNP: rs1057518644
rs1057518644 		0.925 0.120 8 43192413 stop gained C/T snv
CUI: C0013528
Disease: Echolalia
Echolalia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518644
rs1057518644 		0.925 0.120 8 43192413 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057518644
rs1057518644 		0.925 0.120 8 43192413 stop gained C/T snv
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057518644
rs1057518644 		0.925 0.120 8 43192413 stop gained C/T snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs121908286
rs121908286 		1.000 0.120 8 43197682 missense variant C/T snv 4.0E-06 1.4E-05
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: rs483352908
rs483352908 		0.925 0.120 8 43147064 splice donor variant G/A snv 4.7E-05 1.4E-05
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 1.000 8 2006 2015
dbSNP: rs483352908
rs483352908 		0.925 0.120 8 43147064 splice donor variant G/A snv 4.7E-05 1.4E-05
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 1.000 7 2006 2015
dbSNP: rs753355844
rs753355844 		0.882 0.120 8 43193790 missense variant G/A snv 1.6E-05
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 1.000 5 2006 2010
dbSNP: rs753355844
rs753355844 		0.882 0.120 8 43193790 missense variant G/A snv 1.6E-05
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 2006 2010
dbSNP: rs398124544
rs398124544 		1.000 0.120 8 43191596 splice donor variant G/A snv 4.0E-06 2.1E-05
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 1.000 3 2006 2014
dbSNP: rs766835582
rs766835582 		1.000 0.120 8 43182163 missense variant G/A snv 3.6E-05 3.5E-05
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 1.000 3 2006 2009