SLC17A5, solute carrier family 17 member 5, 26503

N. diseases: 204; N. variants: 6
Disease: Sialic Acid Storage Disease, Finnish Type (disorder) ×
Source: BEFREE ×
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: rs80338794
rs80338794 		0.882 0.120 6 73644583 missense variant G/A snv 8.3E-04 4.8E-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 0.870 1.000 7 1999 2011
dbSNP: rs80338795
rs80338795 		0.882 0.120 6 73641810 stop gained T/A;C snv 3.2E-05
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 0.820 1.000 2 1999 2011
dbSNP: rs386833990
rs386833990 		0.925 0.120 6 73644407 splice region variant C/T snv 1.6E-05 2.1E-05
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 0.710 1.000 1 2004 2017