rs121908144, BSND

N. diseases: 3
Disease: Bartter Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bartter Disease
CUI: C0004775
Disease: Bartter Disease
0.010 GeneticVariation BEFREE The functional consequences of p.I12T differ from BSND mutations that cause renal failure and deafness in Bartter syndrome type IV. p.I12T leaves chloride channel function unaffected and only interferes with chaperone function of barttin in intracellular trafficking. 19646679 2009