rs757110

This is a variant in the ABCC8 gene that changes a alanine to an threonine.

▶

GWAS Catalog Trait Associations (8)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

type 2 diabetes mellitus

Vujkovic M et al. “Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.” Nature Genetics 52(7):680-691 (2020)
Allele C
OR 0.06
p 5.0e-52
N 1,407,282
Meta-analysisLarge GWAS
multi-ancestry
Elashi AA et al. “Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus.” Bmc Medical Genomics 17(1):115 (2024)
Allele C
OR 0.07
p 2.0e-47
N 6,710,881
Meta-analysisLarge GWAS
multi-ancestry
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele C
OR 0.95
p 8.0e-10
N 210,865
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.06
p 1.0e-10
N 177,415
Large GWAS
East Asian

diabetes mellitus, Drugs used in diabetes use measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.06
p 1.0e-29
N 315,668
Major Consortium StudyLarge GWAS
European

HbA1c measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 5.0e-29
N 394,642
Large GWAS
European

hemoglobin A1 measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 1.0e-24
N 415,403
Large GWAS
multi-ancestry

diabetes mellitus

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.06
p 3.0e-18
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

Drugs used in diabetes use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.06
p 4.0e-13
N 484,639
Large GWAS
multi-ancestry

hematocrit

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 1.0e-11
N 407,854
Major Consortium StudyLarge GWAS
European

systolic blood pressure

Teixeira SK et al. “Assessing the predictive efficacy of European-based systolic blood pressure polygenic risk scores in diverse Brazilian cohorts.” Scientific Reports 14(1):28123 (2024)
Allele C
OR 0.34
p 3.0e-8
N 286,581
Large GWAS
European
▶

ClinVar annotation

Uncertain Significance★☆☆☆
2 submitters5 publications

Diabetes mellitus, permanent neonatal 3; Diabetes mellitus, transient neonatal, 2 (TNDM2); Hyperinsulinemic hypoglycemia, familial, 1 (HHF1); Leucine-induced hypoglycemia (LIH); Type 2 diabetes mellitus

View on ClinVar →

About ABCC8

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]

View all ABCC8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…