What you carry at this position in your DNA and what research says about it.
Type 2 Diabetes Risk: 10/10 evidence, 32 publications.
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Sample genotype (not yours): G/G
Higher Risk of Type 2 Diabetes
This genotype is associated with a slightly higher risk of developing type 2 diabetes and elevated blood sugar levels. However, it is also linked to stronger bones and a lower risk of breast cancer.
What this genotype means: Higher risk of type 2 diabetes; Elevated blood glucose and HbA1c; Higher bone mineral density.
Sample genotype (not yours): A/A
Lower Risk of Type 2 Diabetes
This genotype is associated with a lower risk of type 2 diabetes and lower average blood sugar levels. However, it is also linked to lower bone mineral density and a slightly higher risk of breast cancer.
What this genotype means: Lower risk of type 2 diabetes; Lower blood glucose and HbA1c; Lower bone mineral density.
Sample genotype (not yours): G/A
Slightly Higher Risk of Type 2 Diabetes
Carrying one copy of the G allele is linked to a modest increase in type 2 diabetes risk and blood glucose levels. It also provides a moderate benefit for bone mineral density.
What this genotype means: Slightly higher risk of type 2 diabetes; Moderately elevated blood glucose; Typical bone mineral density.
Gene function and biological role
Gene Function: The RREB1 gene encodes the ras-responsive element-binding protein 1, a zinc-finger transcription factor that plays a critical role in cellular growth, differentiation, and metabolic regulation [1]. It acts as both a transcriptional activator and repressor, modulating the expression of key metabolic and oncogenic genes [1]. In pancreatic beta cells, RREB1 is involved in regulating insulin gene expression and beta-cell development [2]. It also serves as an upstream regulator of the renin-angiotensin system by repressing the angiotensinogen gene [1]. Genetic variations in this gene have been widely implicated in metabolic traits and susceptibility to type 2 diabetes [3].
Variant Impact: The rs9379084 variant is a missense mutation in the RREB1 gene that results in the substitution of the amino acid aspartate with asparagine at position 1171 of the protein (p.Asp1171Asn). This structural change is thought to alter the transcription factor's binding affinity and regulatory activity on its target genes. Fine-mapping studies have identified this specific coding variant as a key effector transcript driving metabolic associations at this locus [3]. The variant is strongly associated with type 2 diabetes risk, blood glucose levels, and HbA1c [4]. Additionally, it exhibits pleiotropic effects, influencing bone mineral density and cancer susceptibility [5] [6].
Key Insight: This variant presents a fascinating evolutionary trade-off where the same genetic copy that increases the risk for type 2 diabetes actually helps build stronger bones.
Location: RREB1. Chromosome 6 · 6p24.3 · 7.2 Mb
Estimated prevalence by population
Global 82.6%; European 77.6%; African 95.1%; East Asian 71.1%; South Asian 77.7%; Americas 81.6%; Ashkenazi 77.3%; Finnish 78.9%; Middle Eastern 67.7%; Amish 78.7%.
Estimated GG genotype frequency.
Global 16.3%; European 21.0%; African 4.9%; East Asian 26.4%; South Asian 20.9%; Americas 17.5%; Ashkenazi 21.2%; Finnish 19.9%; Middle Eastern 29.1%; Amish 20.0%.
Estimated GA genotype frequency.
Global 1.0%; European 1.4%; African 0.1%; East Asian 2.5%; South Asian 1.4%; Americas 0.9%; Ashkenazi 1.5%; Finnish 1.3%; Middle Eastern 3.1%; Amish 1.3%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 10/10. Source: PMID 29632382. Increased Risk.
Blood Glucose. Evidence: 9/10. Source: PMID 36333282. Elevated Levels.
HbA1c. Evidence: 8/10. Source: PMID 36333282. Elevated Levels.
Organ Systems
Bone, Joint & Connective Tissue Health
Bone Mineral Density. Evidence: 10/10. Source: PMID 28869591. Higher Density.
Cancer & Oncology
Colorectal Cancer
Colorectal Cancer. Evidence: 8/10. Source: PMID 36539618. Increased Risk.
Breast Cancer
Breast Cancer. Evidence: 8/10. Source: PMID 29059683. Lower Risk.
Showing effects for A/A genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 29632382. Lower Risk.
Blood Glucose. Evidence: 9/10. Source: PMID 36333282. Lower Levels.
HbA1c. Evidence: 8/10. Source: PMID 36333282. Lower Levels.
Bone Mineral Density. Evidence: 10/10. Source: PMID 28869591. Lower Density.
Colorectal Cancer. Evidence: 8/10. Source: PMID 36539618. Lower Risk.
Breast Cancer. Evidence: 8/10. Source: PMID 29059683. Increased Risk.
Showing effects for G/A genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 29632382. Slightly Increased.
Blood Glucose. Evidence: 9/10. Source: PMID 36333282. Slightly Elevated.
HbA1c. Evidence: 8/10. Source: PMID 36333282. Slightly Elevated.
Bone Mineral Density. Evidence: 10/10. Source: PMID 28869591. Typical Density.
Colorectal Cancer. Evidence: 8/10. Source: PMID 36539618. Slightly Increased.
Breast Cancer. Evidence: 8/10. Source: PMID 29059683. Slightly Increased.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Double copies of the G allele are associated with a higher risk of developing type 2 diabetes [1]. Elevated fasting blood glucose and higher HbA1c levels are commonly observed with this genotype, reflecting a general tendency toward reduced insulin sensitivity [2]. Fine-mapping studies have identified this variant as a primary driver of metabolic traits in diverse populations [1]. Colorectal cancer risk is also slightly increased with this genotype [3]. On the positive side, higher heel bone mineral density is linked to these alleles, which may offer protection against osteoporosis [4]. Breast cancer risk is also lower compared to carriers of the A allele [5].
Higher risk of type 2 diabetes; Elevated blood glucose and HbA1c; Higher bone mineral density.
Sample genotype: AA (Homozygous)
Protection against type 2 diabetes and associated metabolic complications is significantly stronger with the A/A genotype [1]. Lower average blood glucose and HbA1c levels are linked to this profile, indicating better glycemic control [2]. Fine-mapping studies highlight the A allele as a beneficial variant that reduces the risk of developing diabetes [1]. Lower heel bone mineral density is also associated with this genotype, which may increase the long-term risk of osteoporosis [3]. Breast cancer risk is slightly higher due to the presence of the A allele [4]. ClinVar assessments have classified this variant as benign for rare inherited disorders, confirming it is not a cause of severe monogenic conditions [5].
Lower risk of type 2 diabetes; Lower blood glucose and HbA1c; Lower bone mineral density.
Sample genotype: GA (Heterozygous)
A heterozygous profile with one G allele and one A allele results in a moderate metabolic profile. Modest increases in blood glucose and HbA1c levels are typical compared to the protective A/A genotype [1] [2]. The G allele acts as the risk-increasing variant for these metabolic markers [1]. Typical bone mineral density is associated with this heterozygous state, offering a middle-ground profile [3]. Breast cancer risk is slightly increased compared to G/G homozygotes, as the A allele increases susceptibility to this condition [4]. Colorectal cancer risk is also slightly elevated due to the presence of the G allele [5].
Slightly higher risk of type 2 diabetes; Moderately elevated blood glucose; Typical bone mineral density.
Variants with shared genetic architecture
rs675209 · RREB1 Gene · Chr 6 · Uric Acid and Gout
rs7178572 · HMG20A Gene · Chr 15 · Diabetes Risk
rs1359790 · SPRY2 Gene · Chr 13 · Type 2 Diabetes Risk
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
Association analysis identifies 65 new breast cancer risk loci.
Content updated August 2026.
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