rs151344623
A SNP in the ABCC8 gene on chromosome 11. Its most notable genotype is C;T: Carrier of a hyperinsulinemic hypoglycemia mutation
- Gene
- ABCC8
- Location
- Chr 1117,397,055 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs151344623 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other ABCC8 SNPs
- i5008233T;TFamilial Hyperinsulinism (ABCC8-related)Very important
- rs1048095A;GReported to be associated with permanent neonatal diabetes mellitusVery important
- rs137852672A;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
aka c.3992-9G>A This variant is considered a founder mutation in Ashkenazi Jews, where the combined carrier frequency of this variant and rs151344624 is reported to be 1 in 52, giving an estimated frequency of homozygosity or compound heterozygosity of 1 in 10,816 in this population. The risk of focal CHI is 1 in 540 per pregnancy in offspring of carrier fathers because there can be somatic loss of heterozygosity causing the focal form of the disease.OMIM
C;T
Unaffected in absence of a second ABCC8 gene mutation
Source and license
Adapted from rs151344623 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.