What you carry at this position in your DNA and what research says about it.
Type 2 Diabetes Risk: 6/10 evidence, 34 publications.
You're viewing every possible genotype for this variant.
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Sample genotype (not yours): A/A
Typical Diabetes and Blood Pressure Risk
Baseline metabolic and cardiovascular health are typical for this genotype.
What this genotype means: Typical baseline risk for type 2 diabetes; Standard blood pressure regulation; Normal insulin secretion capacity.
Sample genotype (not yours): A/C
Slightly Higher Diabetes and Blood Pressure Risk
One copy of the C allele is linked to a modest increase in your risk for type 2 diabetes and high blood pressure.
What this genotype means: Slightly increased risk of type 2 diabetes; Modestly higher blood pressure levels; Slightly elevated risk of gestational diabetes.
Sample genotype (not yours): C/C
Higher Diabetes and Blood Pressure Risk
Double copies of the C allele are associated with an elevated risk of type 2 diabetes and high blood pressure.
What this genotype means: Elevated risk of type 2 diabetes; Higher baseline blood pressure levels; Increased risk of gestational diabetes and fatty liver.
Gene function and biological role
Gene Function: The CDKAL1 gene encodes a protein that regulates CDK5 activity, which is crucial for insulin secretion in pancreatic beta-cells [1]. It catalyzes a specific chemical modification on transfer RNA molecules, ensuring accurate protein translation [2]. When this gene's function is impaired, insulin production drops, leading to high blood sugar levels [1]. CDKAL1 is one of the most well-established genetic risk factors for metabolic conditions [3].
Variant Impact: The rs10946398 variant is located in an intron of the CDKAL1 gene and alters how the gene is spliced and expressed [2]. Specifically, the risk-associated C allele reduces the levels of functional CDKAL1, which impairs the modification of transfer RNA [2]. This molecular defect leads to aberrant protein synthesis in pancreatic beta-cells, reducing their ability to secrete insulin in response to glucose [1]. Over time, this deficit in insulin secretion increases susceptibility to type 2 diabetes [3].
Key Insight: This variant affects how your body chemically modifies transfer RNA, which directly impacts how pancreatic cells manufacture and release insulin.
Location: CDKAL1. Chromosome 6 · 6p22.3 · 20.7 Mb
Estimated prevalence by population
Global 37.8%; European 46.9%; African 17.4%; East Asian 37.4%; South Asian 53.8%; Americas 45.6%; Ashkenazi 42.9%; Finnish 39.3%; Middle Eastern 43.7%; Amish 38.8%.
Estimated AA genotype frequency.
Global 45.1%; European 43.2%; African 48.6%; East Asian 47.5%; South Asian 39.1%; Americas 43.8%; Ashkenazi 45.2%; Finnish 46.8%; Middle Eastern 44.8%; Amish 47.0%.
Estimated AC genotype frequency.
Global 17.1%; European 10.0%; African 34.0%; East Asian 15.1%; South Asian 7.1%; Americas 10.5%; Ashkenazi 11.9%; Finnish 13.9%; Middle Eastern 11.5%; Amish 14.2%.
Estimated CC genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 6/10. Source: PMID 17463249. Typical Risk.
Hypertension
Hypertension. Evidence: 6/10. Source: PMID 33230300. Typical Risk.
Systolic Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Typical.
Diastolic Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Typical.
Endocrine & Reproductive
Pregnancy & Birth Complications
Gestational Diabetes. Evidence: 3/10. Source: PMID 28359772. Typical Risk.
Organ Systems
Liver Function & Disease
Fatty Liver Disease. Evidence: 3/10. Source: PMID 33269568. Typical Risk.
Showing effects for A/C genotype
Type 2 Diabetes. Evidence: 6/10. Source: PMID 17463249. ~1.14x Increased Risk.
Hypertension. Evidence: 6/10. Source: PMID 33230300. Slightly Higher Risk.
Systolic Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Slightly Higher.
Diastolic Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Slightly Higher.
Gestational Diabetes. Evidence: 3/10. Source: PMID 28359772. Slightly Higher Risk.
Fatty Liver Disease. Evidence: 3/10. Source: PMID 33269568. Slightly Higher Risk.
Showing effects for C/C genotype
Type 2 Diabetes. Evidence: 6/10. Source: PMID 17463249. ~1.3x Increased Risk.
Hypertension. Evidence: 6/10. Source: PMID 33230300. Higher Risk.
Systolic Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Higher.
Diastolic Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Higher.
Gestational Diabetes. Evidence: 3/10. Source: PMID 28359772. Higher Risk.
Fatty Liver Disease. Evidence: 3/10. Source: PMID 33269568. Higher Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Presence of the A/A genotype indicates that you do not have the risk-increasing C allele at this locus. Studies show that individuals with this genotype maintain standard insulin secretion from pancreatic beta-cells [1]. This helps regulate blood sugar levels efficiently, keeping your baseline risk for type 2 diabetes at the typical population average [2]. Additionally, your genetic predisposition for blood pressure regulation and hypertension remains at the baseline level [3]. You also have a typical risk profile for related metabolic conditions like gestational diabetes and non-alcoholic fatty liver disease. While genetics play a role, maintaining a balanced diet and regular exercise remains key to supporting metabolic health.
Typical baseline risk for type 2 diabetes; Standard blood pressure regulation; Normal insulin secretion capacity.
Sample genotype: AC (Heterozygous)
Presence of the A/C genotype means you carry one copy of the risk-associated C allele. This single copy slightly impairs the splicing of the CDKAL1 gene, leading to a modest reduction in insulin secretion from pancreatic beta-cells [1]. Large-scale genetic studies have linked this reduction to a roughly 1.14-fold increase in the risk of developing type 2 diabetes [2]. Furthermore, this variant is associated with slightly higher systolic and diastolic blood pressure levels, which can elevate the risk of hypertension over time [3]. Women with this genotype may also experience a slightly higher risk of gestational diabetes during pregnancy [4]. There is also a minor association with an increased risk of non-alcoholic fatty liver disease [5]. Focusing on metabolic health through physical activity and a balanced diet can help mitigate these risks.
Slightly increased risk of type 2 diabetes; Modestly higher blood pressure levels; Slightly elevated risk of gestational diabetes.
Sample genotype: CC (Homozygous)
Presence of the C/C genotype means you carry two copies of the risk-increasing C allele. This genotype significantly reduces the expression of functional CDKAL1, which impairs the critical modification of transfer RNA in pancreatic cells [1]. Consequently, insulin secretion in response to glucose is reduced, elevating the risk of type 2 diabetes by approximately 1.3-fold compared to non-carriers. This variant is also associated with higher systolic and diastolic blood pressure, increasing the likelihood of developing hypertension [2]. Additionally, research links this genotype to a higher risk of gestational diabetes during pregnancy and non-alcoholic fatty liver disease. While these genetic factors increase susceptibility, lifestyle choices such as maintaining a healthy weight and regular exercise are highly effective at supporting metabolic health.
Elevated risk of type 2 diabetes; Higher baseline blood pressure levels; Increased risk of gestational diabetes and fatty liver.
Variants with shared genetic architecture
rs7754840 · CDKAL1 Gene · Chr 6 · Type 2 Diabetes Risk
rs7756992 · CDKAL1 Gene · Chr 6 · Type 2 Diabetes Risk
rs9368222 · CDKAL1 Gene · Chr 6 · Type 2 Diabetes Risk
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
GCK, GCKR, FADS1, DGKB/TMEM195 and CDKAL1 Gene Polymorphisms in Women with Gestational Diabetes.
Content updated August 2026.
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