rs8192675

This is a intron variant variant in the SLC2A2 gene.

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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 0.05
p 4.0e-27
N 1,407,282
Meta-analysisLarge GWAS
multi-ancestry
Mahajan A et al. “Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.” Nature Genetics 54(5):560-572 (2022)
Allele C
OR 0.07
p 6.0e-21
N 251,740
Large GWAS
European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.02
p 2.0e-22
N 1,122,049
Large GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele C
OR 0.01
p 1.0e-16
N 694,649
Large GWAS
European
Sidorenko J et al. “Genetic architecture reconciles linkage and association studies of complex traits.” Nature Genetics 56(11):2352-2360 (2024)
Allele C
OR 0.02
p 5.0e-17
N 650,000
Large GWAS
European
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele C
OR 0.02
p 2.0e-14
N 342,566
Large GWAS
European

body height

Richardson TG et al. “Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study.” Bmj (clinical Research Ed.) 369:m1203 (2020)
Allele T
OR 0.01
p 9.0e-15
N 453,169
Large GWAS
European

HbA1c measurement, response to metformin

Zhou K et al. “Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin.” Nature Genetics 48(9):1055-1059 (2016)
Allele C
OR 0.17
p 7.0e-14
N 1,372
Large GWAS
multi-ancestry

hip circumference

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.01
p 8.0e-12
N 394,642
Large GWAS
European

fat pad mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele C
OR 0.02
p 1.0e-11
N 337,196
Large GWAS
European

blood glucose amount

Nagy R et al. “Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.” Genome Medicine 9(1):23 (2017)
Allele C
OR 0.09
p 8.0e-11
N 29,900
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study
Meta-analysisN=159,940Jihye Ryu et al.(2012)· Human Mutation

Transethnic genome-wide meta-analysis in 159,940 individuals identified 60 common genetic variants associated with HbA1c levels. Variants were classified as glycemic (19), erythrocytic (22), or unclassified (19) based on their biological mechanisms. Glycemic variants were associated with higher type 2 diabetes risk (OR=1.05 per allele, p=3×10⁻²⁹), while erythrocytic variants were not. The X-linked G6PD G202A variant showed a large effect in African Americans (0.81% HbA1c reduction per allele) but minimal effects in other ancestries, potentially causing 2% of African American T2D cases to remain undiagnosed when using HbA1c screening.

Traits studied:2-hour glucoseErythrocytic traitsFasting glucoseGlycemic traitsHemoglobin A1c (HbA1c)Type 2 diabetes
PubMedDOIMetascience Observatory

About SLC2A2

This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

View all SLC2A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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