present in Gene: PIAS1
present in Chromosome: 15
Position on Chromosome: 68086598
Alleles of this Variant: C/T
rs774456004 in
PIAS1 gene and
Nephronophthisis
PMID 26489029 2016 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.