What you carry at this position in your DNA and what research says about it.
Type 2 Diabetes Risk: 10/10 evidence, 23 publications.
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Sample genotype (not yours): C/C
Typical Diabetes Risk and Normal Kidney Filtration
A typical risk of type 2 diabetes and normal kidney filtration rates are characteristic of this genetic profile. Blood uric acid levels may be slightly higher, which can mildly elevate the risk of gout.
What this genotype means: Typical risk of type 2 diabetes; Normal kidney filtration rates; Slightly higher uric acid levels.
Sample genotype (not yours): C/T
Slightly Increased Diabetes Risk
A slightly higher risk of developing type 2 diabetes and a subtle decrease in kidney filtration efficiency are associated with this profile. Conversely, a minor protective effect against elevated uric acid levels and gout is also present.
What this genotype means: Slightly increased risk of type 2 diabetes; Subtly lower kidney filtration rate; Slightly lower uric acid levels.
Sample genotype (not yours): T/T
Increased Diabetes Risk and Lower Kidney Filtration
An increased risk of type 2 diabetes and lower kidney filtration rates are linked to this genetic profile. However, blood uric acid levels are significantly lower, resulting in a reduced risk of gout.
What this genotype means: Increased risk of type 2 diabetes; Lower kidney filtration rate; Reduced risk of gout.
Gene function and biological role
Gene Function: Representing a key regulator of metabolic health, the HNF1A gene encodes hepatocyte nuclear factor-1 alpha, a critical transcription factor that controls gene expression in the pancreas, liver, and kidneys [1]. It plays a central role in the development and function of pancreatic beta cells, which are responsible for producing and secreting insulin in response to glucose [1] [2]. Rare, highly disruptive mutations in HNF1A cause maturity-onset diabetes of the young type 3 (MODY3), a monogenic form of diabetes characterized by early-onset beta-cell dysfunction [1] [3]. Common variations in this gene, however, are more subtly linked to the risk of developing type 2 diabetes and variations in metabolic biomarkers [2] [4].
Variant Impact: A missense mutation in the HNF1A gene, rs1800574 changes the amino acid at codon 98 from alanine to valine (p.Ala98Val). This change occurs within the DNA-binding domain of the HNF1A transcription factor, slightly altering its ability to bind to target DNA sequences and regulate downstream genes [1]. While ClinVar classifies this variant as benign for causing the severe, monogenic MODY3 diabetes, large-scale genome-wide association studies show it has a mild but significant impact on polygenic type 2 diabetes risk [4] [5]. Additionally, this variant influences several metabolic and organ-function markers, including kidney filtration rates and uric acid levels [6].
Key Insight: While this variant is classified as benign for causing rare monogenic MODY diabetes, it remains a well-replicated risk factor for common type 2 diabetes. The same genetic change that increases type 2 diabetes risk actually appears to lower the risk of developing gout by reducing blood uric acid levels.
Location: HNF1A. Chromosome 12 · 12q24.31 · 121.0 Mb
Estimated prevalence by population
Global 95.7%; European 94.5%; African 98.9%; East Asian 99.9%; South Asian 87.4%; Americas 97.3%; Ashkenazi 93.7%; Finnish 90.7%; Middle Eastern 93.3%; Amish 95.0%.
Estimated CC genotype frequency.
Global 4.2%; European 5.4%; African 1.1%; East Asian 0.1%; South Asian 12.2%; Americas 2.6%; Ashkenazi 6.2%; Finnish 9.0%; Middle Eastern 6.6%; Amish 4.9%.
Estimated CT genotype frequency.
Global 0.1%; European 0.1%; African < 0.1%; East Asian < 0.1%; South Asian 0.4%; Americas < 0.1%; Ashkenazi 0.1%; Finnish 0.2%; Middle Eastern 0.1%; Amish 0.1%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 10/10. Source: PMID 29632382. Typical Risk.
Gout & Uric Acid
Gout. Evidence: 8/10. Source: PMID 39406924. ~1.09x Risk.
Uric Acid Levels. Evidence: 10/10. Source: PMID 31578528. Slightly Higher.
Organ Systems
Kidney Function & Disease
Kidney Function. Evidence: 10/10. Source: PMID 33462484. Typical Filtration.
Showing effects for C/T genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 29632382. ~1.14x Risk.
Gout. Evidence: 8/10. Source: PMID 39406924. Typical Risk.
Uric Acid Levels. Evidence: 10/10. Source: PMID 31578528. Typical.
Kidney Function. Evidence: 10/10. Source: PMID 33462484. Slightly Lower eGFR.
Showing effects for T/T genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 29632382. Increased Risk.
Gout. Evidence: 8/10. Source: PMID 39406924. Reduced Risk.
Uric Acid Levels. Evidence: 10/10. Source: PMID 31578528. Lower.
Kidney Function. Evidence: 10/10. Source: PMID 33462484. Lower eGFR.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Metabolic profiles with two copies of the common C allele exhibit a typical baseline risk for type 2 diabetes [1]. Pancreatic beta-cell function and insulin secretion remain normal and unaffected by the variant-related declines seen in T allele carriers [2]. Kidney function markers, such as creatinine and estimated glomerular filtration rate (eGFR), also tend to stay within standard healthy ranges [3]. However, the C allele is associated with slightly higher levels of serum urate (uric acid) [4]. This elevation in uric acid can lead to a modest increase in the risk of developing gout [5]. Despite this minor metabolic trade-off, the overall profile is generally considered favorable for metabolic and renal health because it avoids the elevated diabetes risk linked to the variant allele [1] [3].
Typical risk of type 2 diabetes; Normal kidney filtration rates; Slightly higher uric acid levels.
Sample genotype: CT (Heterozygous)
Presence of a single T allele is associated with a mild increase in the risk of developing type 2 diabetes [1]. This genetic change slightly alters the HNF1A transcription factor, which can subtly affect insulin secretion from pancreatic beta cells during glucose challenges [2]. Clinical studies have also linked this profile to minor changes in kidney function biomarkers, including slightly higher creatinine levels and a corresponding minor decrease in estimated glomerular filtration rate (eGFR) [3]. Interestingly, this same genetic variation is associated with lower levels of serum uric acid [4]. As a result, a slightly lower risk of developing gout is observed compared to those with the typical genotype [5]. Maintaining a balanced diet and regular physical activity can help mitigate the modest metabolic risks associated with this variant [1].
Slightly increased risk of type 2 diabetes; Subtly lower kidney filtration rate; Slightly lower uric acid levels.
Sample genotype: TT (Homozygous)
Inheriting two copies of the T allele leads to a more pronounced increase in susceptibility to type 2 diabetes [1]. This genetic profile affects the DNA-binding domain of the HNF1A protein, leading to reduced transcriptional activity and less efficient insulin release from pancreatic beta cells [2]. In addition to glycemic traits, this variant is consistently associated with altered kidney function markers, characterized by higher serum creatinine and lower estimated glomerular filtration rates (eGFR) [3]. Conversely, a strong protective effect against hyperuricemia is observed, as this profile significantly lowers serum uric acid levels [4]. This reduction in uric acid translates to a lower overall risk of developing gout [5]. While the lower gout risk is a benefit, the primary health focus remains on proactive metabolic and cardiovascular wellness to manage the elevated diabetes risk [1] [3].
Increased risk of type 2 diabetes; Lower kidney filtration rate; Reduced risk of gout.
Variants with shared genetic architecture
rs1169288 · HNF1A Gene · Chr 12 · Cardiovascular Risk
rs1183910 · HNF1A Gene · Chr 12 · Baseline Inflammation
rs2244608 · HNF1A Gene · Chr 12 · Heart Disease Risk
Genetics of 35 blood and urine biomarkers in the UK Biobank.
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
A genome-wide association analysis reveals new pathogenic pathways in gout.
Content updated August 2026.
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