Variant: rs104894170 

    present in Gene: PAX2
    present in Chromosome: 10
    Position on Chromosome: 100749914
    Alleles of this Variant: G/C

rs104894170 in PAX2 gene and Papillorenal syndrome PMID 24676634 2014 Mutations in PAX2 associate with adult-onset FSGS.

PMID 9760197 1998 Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

PMID 19954729 2009 A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.

PMID 22213154 2012 Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

PMID 11168927 2001 PAX2 mutations in oligomeganephronia.

PMID 15652857 2005 Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.