SLC17A5, solute carrier family 17 member 5, 26503

N. diseases: 252; N. variants: 47
Disease: Sialic Acid Storage Disease, Finnish Type (disorder) ×
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: rs201284672
rs201284672 		0.925 0.120 6 73621864 stop gained A/C snv 8.4E-05 1.3E-04
CUI: C1096903
Disease: Sialic Acid Storage Disease, Finnish Type (disorder)
Sialic Acid Storage Disease, Finnish Type (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2000 2014