SLC5A2, solute carrier family 5 member 2, 6524

N. diseases: 214; N. variants: 20
Disease: Glycosuria, Renal ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766548165
rs766548165
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		0.010 GeneticVariation BEFREE Here we present data on a large pedigree with renal glycosuria due to two mutations (c.300-303+2del and p.A343V) in the SLC5A2 gene. 26735923 2016