Variant: rs137852919

present in Gene: NPHP4 present in Chromosome: 1 Position on Chromosome: 5887394 Alleles of this Variant: G/A

rs137852919 in NPHP4 gene and Nephronophthisis PMID 15776426 2005 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

PMID 12244321 2002 The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.