present in Gene: NPHP1
present in Chromosome: 2
Position on Chromosome: 110161686
Alleles of this Variant: G/A
rs765263671 in
NPHP1 gene and
Nephronophthisis
PMID 18076122 2008 Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.