Variant: rs1048095 

    present in Gene: ABCC8
    present in Chromosome: 11
    Position on Chromosome: 17461731
    Alleles of this Variant: A/G

rs1048095 in ABCC8 gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 17213273 2007 Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

PMID 16613899 2006 A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

PMID 17668386 2007 Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

PMID 16885549 2006 Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.