GNS, glucosamine (N-acetyl)-6-sulfatase, 2799

N. diseases: 51; N. variants: 5
Disease: MPS III D ×
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: rs119461974
rs119461974 		1.000 0.120 12 64737039 stop gained G/A snv 4.0E-06
CUI: C0086650
Disease: MPS III D
MPS III D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs119461975
rs119461975 		1.000 0.120 12 64728988 stop gained G/A snv
CUI: C0086650
Disease: MPS III D
MPS III D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs483352898
rs483352898 		1.000 0.120 12 64728987 frameshift variant T/- del 4.0E-06
CUI: C0086650
Disease: MPS III D
MPS III D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs483352899
rs483352899 		1.000 0.120 12 64729017 frameshift variant -/AGGAC ins
CUI: C0086650
Disease: MPS III D
MPS III D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs483352900
rs483352900 		1.000 0.120 12 64723087 frameshift variant -/C delins 8.0E-06
CUI: C0086650
Disease: MPS III D
MPS III D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0