rs121908144, BSND

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Kidney Failure
CUI: C0035078
Disease: Kidney Failure
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
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
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
0.010 GeneticVariation BEFREE We identified a BSND mutation (p.I12T) in four kindreds segregating nonsyndromic deafness linked to a 4.04-cM interval on chromosome 1p32.3. 19646679 2009