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: rs149596192
rs149596192 		1.000 0.120 8 43140323 upstream gene variant G/A snv 1.6E-02
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 0.010 1.000 1 2016 2016
dbSNP: rs4523300
rs4523300 		1.000 0.120 8 43139740 upstream gene variant G/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 0.010 1.000 1 2016 2016
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: rs483352896
rs483352896 		0.925 0.120 8 43158921 splice acceptor variant A/G snv 2.5E-05 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 2011 2015
dbSNP: rs483352896
rs483352896 		0.925 0.120 8 43158921 splice acceptor variant A/G snv 2.5E-05 2.1E-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 2 2008 2011
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: 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: 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: rs749568919
rs749568919 		1.000 0.120 8 43191472 splice acceptor variant A/T snv 4.0E-06 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: rs755710040
rs755710040 		1.000 0.120 8 43178072 splice acceptor variant A/C snv 1.2E-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 0
dbSNP: rs1085307880
rs1085307880 		0.925 0.120 8 43170690 frameshift variant A/- del
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 2007 2009
dbSNP: rs1085307880
rs1085307880 		0.925 0.120 8 43170690 frameshift variant A/- del
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 1.000 2 2007 2009
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: rs483352894
rs483352894 		0.925 0.120 8 43192397 frameshift variant -/G delins 8.1E-06
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 0
dbSNP: rs483352894
rs483352894 		0.925 0.120 8 43192397 frameshift variant -/G delins 8.1E-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: rs483352895
rs483352895 		1.000 0.120 8 43161468 frameshift variant -/T 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: 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: rs193066451
rs193066451 		0.882 0.120 8 43159045 splice donor variant G/A snv 4.0E-05 1.3E-04
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 2006 2006
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: 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