Variant: rs1172328722 

    present in Gene: HNF1A
    present in Chromosome: 12
    Position on Chromosome: 120988982
    Alleles of this Variant: G/A

rs1172328722 in HNF1A gene and MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) PMID 12488961 2002 High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance.

PMID 10078571 1999 Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.

PMID 9097962 1997 Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).

PMID 20132997 2010 Three novel mutations in MODY and its phenotype in three different Czech families.

PMID 10754480 2000 Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families.