rs1048095
A SNP in the ABCC8 gene on chromosome 11. Its most notable genotype is A;G: Reported to be associated with permanent neonatal diabetes mellitus
- Gene
- ABCC8
- Location
- Chr 1117,461,731 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- A;GMost notableBadReported to be associated with permanent neonatal diabetes mellitus
- A;AGoodcommon in clinvar
SNPedia records rs1048095 on the minus strand: (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageA;G <1% A;A 100%
- European ancestry (Utah)A;G 0% A;A 100%
- Han Chinese (Beijing)A;G 0% A;A 100%
- Japanese (Tokyo)A;G 0% A;A 100%
- Yoruba (Nigeria)A;G <1% A;A 99%
Related
Conditions, medicines and genes
Other ABCC8 SNPs
- i5008233T;TFamilial Hyperinsulinism (ABCC8-related)Very important
- rs137852672A;TCarrier of a hyperinsulinemic hypoglycemia mutationImportant
- rs151344623C;TCarrier of a hyperinsulinemic hypoglycemia mutationImportant
- rs151344624-;TTCCarrier of a hyperinsulinemic hypoglycemia mutationImportant
- rs757110C;Ccommon in clinvarTypical
- rs137852676C;Ccommon in clinvarTypical
Notes
From SNPedia
Notes
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.
A;G
See the description on the rs1048095 SNPedia page.
Source and license
Adapted from rs1048095 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.