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: rs775078211
rs775078211 		0.882 0.120 8 43191495 stop gained C/G;T snv 4.0E-06; 1.6E-05
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 1.000 2 2006 2013
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: rs112029032
rs112029032 		0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2006 2006
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: rs1401818080
rs1401818080 		8 43197027 splice region variant -/A delins 4.0E-06; 1.2E-05 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1447092074
rs1447092074 		1.000 0.120 8 43178073 splice acceptor variant G/A snv 4.0E-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 1 2007 2007
dbSNP: rs1554533211
rs1554533211 		1.000 0.120 8 43178169 stop gained 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 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: rs193066451
rs193066451 		0.882 0.120 8 43159045 splice donor variant G/A snv 4.0E-05 1.3E-04
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 2006 2006
dbSNP: rs398124545
rs398124545 		1.000 0.120 8 43193844 splice donor variant G/A snv 8.0E-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 1 2007 2007
dbSNP: rs762402992
rs762402992 		1.000 0.120 8 43172308 splice acceptor variant A/G snv 4.0E-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 1 2009 2009
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: rs1085307112
rs1085307112 		1.000 0.120 8 43173728 missense variant 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: rs121908283
rs121908283 		1.000 0.120 8 43178184 stop gained 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: rs121908284
rs121908284 		1.000 0.120 8 43193824 missense variant T/A snv 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 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