Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia

Geno Mag Summary
(C;C) 3 increased risk for type-2 diabetes
(C;T) 2.5 increased risk for type-2 diabetes
(T;T) 0 Normal risk for type-2 diabetes
ReferenceGRCh38 38.1/141
GeneLOC105375716, SLC30A8
is asnp
is mentioned by
dbSNP (classic)rs13266634
1000 genomesrs13266634
GWAS Ctlgrs13266634
Max Magnitude3
? (C;C) (C;T) (T;T) 28

rs13266634, also known as c.973C>T or p.Trp325Arg, is a SNP in the zinc transporter protein member 8 SLC30A8 gene that has primarily been associated with type-2 diabetes in several studies. This SNP is also known as the Arg325Trp or R325W variant; the (C) allele encodes the arginine (R), and the (T) allele encodes the tryptophan (W).

[PMID 18162508] significantly associated p = 0.0073; in 1,630 Japanese subjects with type-2 diabetes and in 1,064 controls

The major alleles of the SLC30A8 SNP rs13266634 and the HHEX SNP rs7923837 associate with reduced insulin secretion, but not with insulin resistance. [PMID 17786204OA-icon.png]

[PMID 18324385] 46% of European non-diabetic offspring of type-2 diabetes patients are rs13266634(C;C) homozygotes; they are diabetes-prone and characterised by a 19% decrease in first-phase insulin release following an intravenous glucose load.

  • Note: this SNP, rs13266634, is not represented on the Affymetrix 5.0 chip. Since it is also in an area of high recombination, it also lacks a proxy on the Affy chip and thus could not have been detected in the large genome-wide type-2 diabetes study performed by the Wellcome Trust Consortium. [PMID 17554300OA-icon.png]

[PMID 18437351] 1,638 type-2 diabetes patients and 1,858 controls

  • rs13266634 in SLC30A8 (OR 1.20, 95% CI: 1.09-1.33, p = 3.9 x 10(-4)).

[PMID 18548167OA-icon.png] rs13266634(C) allele is associated with younger age of onset of type-1 diabetes

[PMID 19033397OA-icon.png] This SNP was confirmed to be associated with type-2 diabetes in a study of 500+ Japanese patients plus pooled meta-analysis with 6 previous association studies (also of Japanese).

spitotoon associated with blood sugar levels (glycated hemoglobin levels) rs13266634(C)

SNP rs13266634
PubMedID [PMID 17293876]
Condition Type 2 diabetes
Gene SLC30A8
Risk Allele C
pValue 6.00E-008
OR 1.18
95% CI 0.69-1.67

[PMID 19258437OA-icon.png] A Genetic Variant in the IGF2BP2 Gene may Interact with Fetal Malnutrition on Glucose Metabolism.

[PMID 19096518OA-icon.png] Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.

GWAS snp
PMID [PMID 19056611OA-icon.png]
Trait Type 2 diabetes
Title Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data
Risk Allele
P-val 0.000007
Odds Ratio 1.18 [1.10-1.27]
GWAS snp
PMID [PMID 17463246]
Trait Type 2 diabetes
Title Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
Risk Allele C
P-val 4.9999999999999998E-8
Odds Ratio 1.12 [1.07-1.16]
GWAS snp
PMID [PMID 17463248OA-icon.png]
Trait Type 2 diabetes
Title A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
Risk Allele C
P-val 4.9999999999999998E-8
Odds Ratio 1.12 [1.07-1.16]
GWAS snp
PMID [PMID 17460697]
Trait Type 2 diabetes
Title A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
Risk Allele C
P-val 0.0000030000000000000001
Odds Ratio 1.15 [1.08-1.22]
GWAS snp
PMID [PMID 17463249OA-icon.png]
Trait Type 2 diabetes
Title Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
Risk Allele C
P-val 5E-8
Odds Ratio 1.12 [1.07-1.16]
GWAS snp
PMID [PMID 19401414OA-icon.png]
Trait Type 2 diabetes
Title Confirmation of multiple risk loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population
Risk Allele C
P-val 2E-14
Odds Ratio 1.22 [1.16-1.28]

[PMID 19590848] Autoantibodies to zinc transporter 8 and SLC30A8 genotype stratify type 1 diabetes risk

[PMID 19655390] Zn(2+)-transporter-8: A dual role in diabetes

[PMID 19741166OA-icon.png] Common Genetic Determinants of Glucose Homeostasis in Healthy Children: The European Youth Heart Study (EYHS)

GWAS snp
PMID [PMID 19734900]
Trait Type 2 diabetes and other traits
Title Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia
Risk Allele C
P-val 8E-8
Odds Ratio 1.16 [1.10-1.22]

[PMID 20167458] SLC30A8 polymorphism and type 2 diabetes risk: Evidence from 27 study groups

[PMID 20802253OA-icon.png] Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion

[PMID 20839289OA-icon.png] Impact of repeated measures and sample selection on genome-wide association studies of fasting glucose

[PMID 21036910OA-icon.png] Association of a fasting glucose genetic risk score with subclinical atherosclerosis: The Atherosclerosis Risk in Communities (ARIC) Study

[PMID 21131091] Association between rs13266634 C/T polymorphisms of solute carrier family 30 member 8 (SLC30A8) and type 2 diabetes, impaired glucose tolerance, type 1 diabetes-A meta-analysis


[PMID 21510814] Association of Genetic Variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 Diabetes Mellitus in Tunisia

[PMID 22069278OA-icon.png] Mapping of conformational autoantibody epitopes in ZNT8

[PMID 22569928OA-icon.png] Analysis of common type 2 diabetes mellitus genetic risk factors in new-onset diabetes after transplantation in kidney transplant patients medicated with tacrolimus

[PMID 22584884] The Effect of Type 2 Diabetes Risk Loci on Insulin Requirements in Type 1 Diabetes

Risk Rs13266634(T;T)
Alt Rs13266634(T;T)
Reference Rs13266634(C;C)
Significance Other
Variation info
Gene SLC30A8
Reversed 0
HGVS NC_000008.10:g.118184783C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001055.3,

[PMID 17786212OA-icon.png] Heterogeneity in meta-analyses of genome-wide association investigations.

[PMID 17928989] Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population.

[PMID 17971426] Polymorphisms in the IDE-KIF11-HHEX gene locus are reproducibly associated with type 2 diabetes in a Japanese population.

[PMID 18162509] A polymorphism in the zinc transporter gene SLC30A8 confers resistance against posttransplantation diabetes mellitus in renal allograft recipients.

[PMID 18210030] Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study.

[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.

[PMID 18400535] A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population.

[PMID 18426861OA-icon.png] Association analysis of type 2 diabetes Loci in type 1 diabetes.

[PMID 18443202OA-icon.png] Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.

[PMID 18461161OA-icon.png] Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.

[PMID 18469204OA-icon.png] Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.

[PMID 18498634OA-icon.png] The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.

[PMID 18533027OA-icon.png] Worldwide population differentiation at disease-associated SNPs.

[PMID 18544707OA-icon.png] Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.

[PMID 18556337OA-icon.png] Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).

[PMID 18591387OA-icon.png] A common nonsynonymous single nucleotide polymorphism in the SLC30A8 gene determines ZnT8 autoantibody specificity in type 1 diabetes.

[PMID 18591388OA-icon.png] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.

[PMID 18598350OA-icon.png] Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk.

[PMID 18628523] Zinc transporter-8 gene (SLC30A8) is associated with type 2 diabetes in Chinese.

[PMID 18633108OA-icon.png] Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population.

[PMID 18654633OA-icon.png] Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.

[PMID 18689899OA-icon.png] Exchangeable models of complex inherited diseases.

[PMID 18694974OA-icon.png] Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.

[PMID 18782870OA-icon.png] Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.

[PMID 18850084] Association between anti-ZnT8 autoantibody specificities and SLC30A8 Arg325Trp variant in Japanese patients with type 1 diabetes.

[PMID 18852197OA-icon.png] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

[PMID 18991055] Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.

[PMID 19002430] Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.

[PMID 19008344OA-icon.png] Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians.

[PMID 19020323OA-icon.png] Genotype score in addition to common risk factors for prediction of type 2 diabetes.

[PMID 19108828] Genetic variations of solute carrier family 30 (zinc transporter) member 8 (SLC30A8) are not associated with polycystic ovary syndrome.

[PMID 19161620OA-icon.png] An open access database of genome-wide association results.

[PMID 19172244] The risk allele load accelerates the age-dependent decline in beta cell function.

[PMID 19207020OA-icon.png] Meta-analysis in genome-wide association studies.

[PMID 19228808OA-icon.png] Type 2 diabetes risk alleles are associated with reduced size at birth.

[PMID 19279076OA-icon.png] Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.

[PMID 19324937OA-icon.png] Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults.

[PMID 19341491OA-icon.png] Genome-based prediction of common diseases: methodological considerations for future research.

[PMID 19455305OA-icon.png] No association of multiple type 2 diabetes loci with type 1 diabetes.

[PMID 19460916OA-icon.png] Genetic architecture of type 2 diabetes: recent progress and clinical implications.

[PMID 19502414OA-icon.png] Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.

[PMID 19526209OA-icon.png] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?

[PMID 19542200OA-icon.png] Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants.

[PMID 19602701OA-icon.png] Underlying genetic models of inheritance in established type 2 diabetes associations.

[PMID 19741467] Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.

[PMID 19862325OA-icon.png] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.

[PMID 19956108OA-icon.png] Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.

[PMID 19956539OA-icon.png] How many genetic variants remain to be discovered?

[PMID 20017978OA-icon.png] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.

[PMID 20018041OA-icon.png] The effect of multiple genetic variants in predicting the risk of type 2 diabetes.

[PMID 20043853OA-icon.png] Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.

[PMID 20049090OA-icon.png] Association between type 2 diabetes loci and measures of fatness.

[PMID 20075150OA-icon.png] Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.

[PMID 20138556] Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets.

[PMID 20144318OA-icon.png] A strategy for analyzing gene-nutrient interactions in type 2 diabetes.

[PMID 20144327OA-icon.png] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.

[PMID 20161779OA-icon.png] Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.

[PMID 20351753] A low-risk ZnT-8 allele (W325) for post-transplantation diabetes mellitus is protective against cyclosporin A-induced impairment of insulin secretion.

[PMID 20424228OA-icon.png] Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians.

[PMID 20509872OA-icon.png] Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population.

[PMID 20532014OA-icon.png] The epidemiology of diabetes in Korea: from the economics to genetics.

[PMID 20550665OA-icon.png] Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.

[PMID 20554072] Gestational diabetes mellitus screening based on the gene chip technique.

[PMID 20712903OA-icon.png] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.

[PMID 20809084] Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with type 2 diabetes mellitus and repaglinide response in Chinese patients.

[PMID 20836749] Correlations between islet autoantibody specificity and the SLC30A8 genotype with HLA-DQB1 and metabolic control in new onset type 1 diabetes.

[PMID 21278902OA-icon.png] Genetic risk profiling for prediction of type 2 diabetes.

[PMID 21283728OA-icon.png] Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.

[PMID 21437630] Association of type 2 diabetes susceptibility genes (TCF7L2, SLC30A8, PCSK1 and PCSK2) and proinsulin conversion in a Chinese population.

[PMID 21604969] Relationship between ZnT8Ab, the SLC30A8 gene and disease progression in children with newly diagnosed type 1 diabetes.

[PMID 21779873OA-icon.png] Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at baseline and after lifestyle, metformin or troglitazone intervention in the Diabetes Prevention Program.

[PMID 22377714] Impact of common type 2 diabetes risk gene variants on future type 2 diabetes in the non-diabetic population in Korea.

[PMID 22686132] Association between autoantibodies to the Arginine variant of the Zinc transporter 8 (ZnT8) and stimulated C-peptide levels in Danish children and adolescents with newly diagnosed type 1 diabetes.

[PMID 23194113] Zinc transporter type 8 autoantibodies (ZnT8A): prevalence and phenotypic associations in latent autoimmune diabetes in adults and type 1 diabetes diagnosed >35 years

[PMID 22749234] Contribution of common variants of ENPP1, IGF2BP2, KCNJ11, MLXIPL, PPARγ, SLC30A8 and TCF7L2 to the risk of type 2 diabetes in Lebanese and Tunisian Arabs

[PMID 24449369] SLC30A8 gene polymorphism (rs13266634 C/T) and type 2 diabetes mellitus in south Iranian population

[PMID 24499956] SLC30A8 rs13266634 polymorphism is related to a favorable cardiometabolic lipid profile in HIV/hepatitis C virus-coinfected patients

[PMID 22447136] ZnT8 and type 1 diabetes.

[PMID 22778022] No association between the type 2 diabetes mellitus susceptibility gene, SLC30A8 and schizophrenia in a Chinese population.

[PMID 22923468OA-icon.png] Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population.

[PMID 23061550] Prevalence of ZnT8 antibody in relation to phenotype and SLC30A8 polymorphism in adult autoimmune diabetes: results from the HUNT study, Norway.

[PMID 23126564] Antigenicity and epitope specificity of ZnT8 autoantibodies in type 1 diabetes.

[PMID 23298195] Association study of genetic variants of 17 diabetes-related genes/loci and cardiovascular risk and diabetic nephropathy in the Chinese She population.

[PMID 23334806OA-icon.png] Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus.

[PMID 23458876] ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.

[PMID 23462794OA-icon.png] Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.

GWAS snp
PMID [PMID 24647736OA-icon.png]
Trait Glycated hemoglobin levels
Title Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
Risk Allele A
P-val 2E-7
Odds Ratio .05 [NR] unit decrease
GWAS snp
PMID [PMID 23945395]
Trait Type 2 diabetes
Title Genome-wide association study identifies three novel loci for type 2 diabetes.
Risk Allele C
P-val 5E-7
Odds Ratio 1.12 [1.07-1.17]

[PMID 26109524] Role of high-risk variants in the development of impaired glucose metabolism was modified by birth weight in Han Chinese

[PMID 26837367] [Association between type 2 diabetes in Uygur and polymorphisms of SLC30A8 and its interaction with smoking].

[PMID 27310578OA-icon.png] Replication and Relevance of Multiple Susceptibility Loci Discovered from Genome Wide Association Studies for Type 2 Diabetes in an Indian Population.

[PMID 27437873OA-icon.png] A common variant within the HNF1B gene is associated with overall survival of multiple myeloma patients: Results from the IMMEnSE consortium and meta-analysis.

[PMID 28072873OA-icon.png] Association Study with 77 SNPs Confirms the Robust Role for the rs10830963/G of MTNR1B Variant and Identifies Two Novel Associations in Gestational Diabetes Mellitus Development.

[PMID 28490771OA-icon.png] Some dietary factors can modulate the effect of the zinc transporters 8 polymorphism on the risk of metabolic syndrome.

[PMID 28965566] Differential cytolocation and functional assays of the two major human SLC30A8 (ZnT8) isoforms.

[PMID 29518490] Association of 48 type2 diabetes susceptibility loci with fasting plasma glucose and lipid levels in Chinese Hans.

[PMID 29871606OA-icon.png] Impact of KCNQ1, CDKN2A/2B, CDKAL1, HHEX, MTNR1B, SLC30A8, TCF7L2, and UBE2E2 on risk of developing type 2 diabetes in Thai population.

[PMID 30091126] Association of type 2 diabetes susceptible genes GCKR, SLC30A8, and FTO polymorphisms with gestational diabetes mellitus risk: a meta-analysis.

[PMID 31823921OA-icon.png] Determination of individual type 2 diabetes risk profile in the North East Indian population & its association with anthropometric parameters.

[PMID 32912862OA-icon.png] In vivo Reporter Assays Uncover Changes in Enhancer Activity Caused by Type 2 Diabetes Associated SNPs.

[PMID 33161057] SLC30A8 Gene Polymorphism rs13266634 Associated with Increased Risk for Developing Type 2 Diabetes Mellitus in Jordanian Population.