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 Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516910
rs1057516910
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096903
Disease:
Sialic Acid Storage Disease, Finnish Type (disorder) 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs1057516910
rs1057516910
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096903
Disease:
Sialic Acid Storage Disease, Finnish Type (disorder) 		T 0.700 GeneticVariation CLINVAR Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. 15805149 2005