rs202166715, SLC5A1

N. diseases: 2
Disease: Dehydration ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dehydration
CUI: C0011175
Disease: Dehydration
0.010 GeneticVariation BEFREE The clinical and diagnostic course of an infant with recurrent episodes of watery diarrhea and hypernatremic dehydration found to be homozygous for a rare variant in the SLC5A1 gene, c.187C>T (p.R63X) is described. 28283348 2018