SLC26A3, solute carrier family 26 member 3, 1811

N. diseases: 128; N. variants: 58
Disease: Central Core Myopathy (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833481
rs386833481
Entrez Id: 1811
Gene Symbol: SLC26A3
SLC26A3
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.010 GeneticVariation BEFREE Our study provides an important insight of SLC26A3 SNPs in the regulation of the epithelial permeability and indicates that SLC26A3 rs386833481 is likely a causative mutation in the dysfunction of epithelial barrier of CCD, and correction of this SNP or increasing SLC26A3 function could be therapeutically beneficial for chronic diarrhea diseases. 31114672 2019