Variant: rs1286804191 

    present in Gene: GCK
    present in Chromosome: 7
    Position on Chromosome: 44145212
    Alleles of this Variant: G/A

rs1286804191 in GCK gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.

PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.