What you carry at this position in your DNA and what research says about it.
Type 2 Diabetes Risk: 10/10 evidence, 54 publications.
You're viewing every possible genotype for this variant.
None of these is your result. Use the genotype toggle to compare them, then sign up and upload your DNA to see which one is yours.
Sample genotype (not yours): A/A
Typical Risk of Type 2 Diabetes
A baseline genetic profile at this position is associated with typical insulin secretion and standard risk for type 2 diabetes. It represents the most common sequence for healthy glucose regulation.
What this genotype means: Typical insulin secretion; Baseline risk of type 2 diabetes.
Sample genotype (not yours): A/G
Increased Risk of Type 2 Diabetes
Presence of a single G allele is associated with a moderately increased risk of developing type 2 diabetes. This genetic change is linked to a slight reduction in insulin secretion after meals.
What this genotype means: Slightly reduced insulin secretion; Moderately increased risk of type 2 diabetes.
Sample genotype (not yours): G/G
Presence of two G alleles is associated with an increased risk of type 2 diabetes and slightly higher blood pressure. It may also correlate with a more favorable response to certain diabetes medications.
What this genotype means: Reduced insulin secretion; Increased risk of type 2 diabetes; Slightly higher blood pressure.
Gene function and biological role
Gene Function: The CDKAL1 gene encodes a protein that plays a critical role in insulin secretion and pancreatic beta-cell function [1]. It is involved in the chemical modification of transfer RNA, which is essential for the accurate translation and folding of proinsulin [2]. When CDKAL1 function is compromised, beta-cells produce less insulin in response to glucose, leading to higher blood sugar levels [1] [3]. This gene is one of the most well-established genetic loci associated with susceptibility to type 2 diabetes across diverse global populations [1] [4].
Variant Impact: The rs7756992 variant is located within an intron of the CDKAL1 gene. Although it does not directly alter the amino acid sequence of the protein, it acts as a regulatory marker that influences gene expression [1]. The G allele of this variant is strongly associated with reduced first-phase insulin secretion [2]. This reduction in insulin output impairs the body's ability to regulate glucose levels, significantly increasing the risk of developing type 2 diabetes [1] [3]. It is also linked to other metabolic and cardiovascular measurements, including blood pressure [5].
Key Insight: The G allele of this variant not only increases type 2 diabetes risk but is also linked to slightly higher blood pressure and lower infant birth weight.
Location: CDKAL1. Chromosome 6 · 6p22.3 · 20.7 Mb
Estimated prevalence by population
Global 41.1%; European 52.7%; African 19.1%; East Asian 27.6%; South Asian 52.8%; Americas 47.5%; Ashkenazi 46.8%; Finnish 42.3%; Middle Eastern 47.7%; Amish 40.5%.
Estimated AA genotype frequency.
Global 43.6%; European 39.8%; African 49.2%; East Asian 49.9%; South Asian 39.7%; Americas 42.8%; Ashkenazi 43.2%; Finnish 45.5%; Middle Eastern 42.7%; Amish 46.3%.
Estimated AG genotype frequency.
Global 15.3%; European 7.5%; African 31.7%; East Asian 22.5%; South Asian 7.5%; Americas 9.6%; Ashkenazi 10.0%; Finnish 12.2%; Middle Eastern 9.6%; Amish 13.2%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 10/10. Source: PMID 17460697. Typical Risk.
Insulin Secretion. Evidence: 4/10. Source: PMID 28490609. Typical.
Hypertension
Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Typical.
Endocrine & Reproductive
Pregnancy & Birth Complications
Gestational Diabetes. Evidence: 6/10. Source: PMID 40069456. Typical Risk.
Birth Weight. Evidence: 6/10. Source: PMID 31681408. Typical.
Pharmacogenomics
Diabetes Medication Response
DPP-4 Inhibitor Response. Evidence: 5/10. Source: PMID 27139004. Typical Response.
Showing effects for A/G genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 17460697. ~1.3x Increased Risk.
Insulin Secretion. Evidence: 4/10. Source: PMID 28490609. Slightly Reduced.
Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Slightly Elevated.
Gestational Diabetes. Evidence: 6/10. Source: PMID 40069456. Increased Risk.
Birth Weight. Evidence: 6/10. Source: PMID 31681408. Slightly Lower.
Showing effects for G/G genotype
DPP-4 Inhibitor Response. Evidence: 5/10. Source: PMID 27139004. Stronger Response.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Two copies of the A allele represent the standard or baseline genetic profile at this position [1]. Individuals with this genotype typically exhibit normal first-phase insulin secretion in response to glucose [2]. This helps maintain healthy blood sugar levels and lowers the likelihood of developing type 2 diabetes compared to G allele carriers [1] [3]. Additionally, this genotype is associated with typical blood pressure levels and standard infant birth weights [4] [5]. While genetics play a role, overall metabolic health remains heavily influenced by lifestyle factors such as diet and exercise [6]. This baseline profile is common across many global populations.
Typical insulin secretion; Baseline risk of type 2 diabetes.
Sample genotype: AG (Heterozygous)
One copy of the G allele is linked to a roughly 1.3-fold increase in the risk of developing type 2 diabetes [1]. This genetic variant is associated with impaired first-phase insulin secretion from pancreatic beta-cells [2]. Over time, the reduced ability to quickly release insulin in response to glucose can lead to elevated blood sugar levels [3]. This genotype is also associated with slightly higher systolic and diastolic blood pressure [4]. Pregnant individuals with this genotype may also have a slightly higher risk of gestational diabetes [5].
Slightly reduced insulin secretion; Moderately increased risk of type 2 diabetes.
Sample genotype: GG (Homozygous)
Two copies of the G allele are associated with an increased risk of developing type 2 diabetes, estimated at around 1.3-fold [1]. This genotype is linked to reduced insulin secretion from pancreatic beta-cells, making it harder for the body to manage blood sugar spikes [2]. It is also associated with slightly higher systolic and diastolic blood pressure, which can contribute to cardiovascular strain [3]. Pregnant individuals carrying this genotype face an elevated risk of gestational diabetes [4]. Interestingly, some research suggests that individuals with the GG genotype may show a better therapeutic response to dipeptidyl peptidase 4 (DPP-4) inhibitors [5].
Reduced insulin secretion; Increased risk of type 2 diabetes; Slightly higher blood pressure.
Variants with shared genetic architecture
rs7754840 · CDKAL1 Gene · Chr 6 · Type 2 Diabetes Risk
rs9368222 · CDKAL1 Gene · Chr 6 · Type 2 Diabetes Risk
rs10440833 · CDKAL1 Gene · Chr 6 · Type 2 Diabetes Risk
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.
Three Novel Loci for Infant Head Circumference Identified by a Joint Association Analysis.
Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.
Content updated August 2026.
ReadYourDNA provides educational interpretation of DNA data you already have. It is not diagnostic, not a substitute for professional medical advice, diagnosis, or treatment, and is not intended to diagnose, treat, cure, or prevent any disease. Talk to a clinician before acting on any result.
Raw DNA Data Reports for 23andMe & AncestryDNA · About ReadYourDNA · FAQ · Methodology & Science · Pricing · Support and complaints · Legal & Contact · Health Traits · Pharmacogenomics · Carrier Status · Variant Explorer · The Human Karyotype · Privacy Policy · Terms of Service · Accessibility · Consumer Health Data Privacy · Your Privacy Choices · Editorial Standards · Your Data, Checkable · Sample Report · ReadYourDNA and Promethease compared · What is inside a 23andMe raw data file · What is inside an AncestryDNA raw data file · What a chatbot can and cannot do with your raw DNA file · Where a raw DNA file can still be uploaded in 2026
Written, maintained and operated by Martin Pechhacker, sole proprietor, Vienna, Austria. Trade register GISA 40064420. support@readyourdna.com