Disease: MPS III C ×
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: rs756310864
rs756310864 		0.925 0.120 8 43197848 missense variant C/T snv 1.3E-04 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 4 2006 2010