Variant: rs1057517744 

    present in Gene: HNF1B
    present in Chromosome: 17
    Position on Chromosome: 37739443
    Alleles of this Variant: G/A

rs1057517744 in HNF1B gene and Renal cysts and diabetes syndrome PMID 27234567 2016 Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

PMID 21380624 2011 HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

PMID 25536396 2015 HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

PMID 15930087 2006 Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

PMID 15068978 2004 Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

PMID 24897035 2014 The HNF1B score is a simple tool to select patients for HNF1B gene analysis.

PMID 16249435 2005 Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.

PMID 25700310 2015 A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.