Variant: rs104893721 

    present in Gene: CLDN16
    present in Chromosome: 3
    Position on Chromosome: 190408436
    Alleles of this Variant: G/A;T

rs104893721 in CLDN16 gene and Primary hypomagnesemia (disorder) PMID 10878661 2000 Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.

PMID 10390358 1999 Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.

PMID 11518780 2001 Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.