Variant: rs372607453 

    present in Gene: RBM48
    present in Chromosome: 7
    Position on Chromosome: 92534788
    Alleles of this Variant: A/G

rs372607453 in RBM48 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.