Rs1048095

rs1048095, also known as L225P, Leu225Pro and 674T>C, is a rare variant in the ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ABCC8 gene.

Heterozygous carriers for this SNP are reported to have permanent neonatal diabetes mellitus (PNDM). It was also reported that patients have been successfully treated with oral sulfonylureas.