Variant: rs104893726 

    present in Gene: CLDN16
    present in Chromosome: 3
    Position on Chromosome: 190408416
    Alleles of this Variant: T/G

rs104893726 in CLDN16 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs104893726 in CLDN16 gene and Nephrolithiasis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs104893726 in CLDN16 gene and Primary hypomagnesemia (disorder) 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.

PMID 10878661 2000 Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.