What you carry at this position in your DNA and what research says about it.
Cancer and Diabetes Risk: 8/10 evidence, 68 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
Higher Risk of Prostate and Endometrial Cancers
An increased risk of developing prostate and endometrial cancers is associated with this genetic profile. Conversely, a protective effect lowers the likelihood of developing type 2 diabetes.
What this genotype means: Increased risk of prostate cancer; Increased risk of endometrial cancer; Decreased risk of type 2 diabetes.
Sample genotype (not yours): A/G
Typical Cancer and Diabetes Risk
A balanced genetic profile results from carrying one copy of each allele. Risks for both hormone-sensitive cancers and type 2 diabetes remain at typical population baselines.
What this genotype means: Typical baseline risk for prostate cancer; Typical baseline risk for type 2 diabetes.
Sample genotype (not yours): G/G
Higher Diabetes Risk but Lower Cancer Risk
An increased risk of developing type 2 diabetes characterizes this genetic profile. Conversely, a protective effect lowers the likelihood of developing prostate and endometrial cancers.
What this genotype means: Increased risk of type 2 diabetes; Decreased risk of prostate cancer; Decreased risk of endometrial cancer.
Gene function and biological role
Gene Function: The HNF1B gene, also known as TCF2, encodes a transcription factor essential for the development and function of several organs, including the pancreas, kidneys, and genital tract [1]. It plays a critical role in regulating insulin secretion and maintaining glucose balance [2]. Mutations in this gene can lead to maturity-onset diabetes of the young [3]. Additionally, HNF1B acts as a regulator of epithelial differentiation and has been implicated in tissue-specific tumor suppression or oncogenesis [4].
Variant Impact: An intronic single nucleotide polymorphism located within the HNF1B gene on chromosome 17q12, rs4430796 acts as a pleiotropic regulator that simultaneously influences multiple seemingly unrelated health conditions [1]. The variant alters the expression levels of the HNF1B gene, which in turn affects downstream cellular pathways in both pancreatic and reproductive tissues [4]. Interestingly, this variant exhibits a distinct genetic trade-off: one allele increases susceptibility to certain hormone-sensitive cancers while offering protection against metabolic dysfunction, whereas the other allele does the opposite [1].
Key Insight: This variant represents a direct evolutionary trade-off: the same genetic copy that increases your risk for prostate cancer actually lowers your risk for type 2 diabetes.
Location: HNF1B. Chromosome 17 · 17q12 · 37.7 Mb
Estimated prevalence by population
Global 25.1%; European 27.3%; African 11.2%; East Asian 50.1%; South Asian 41.8%; Americas 29.2%; Ashkenazi 17.9%; Finnish 43.4%; Middle Eastern 19.3%; Amish 14.4%.
Estimated AA genotype frequency.
Global 47.6%; European 49.9%; African 44.5%; East Asian 41.4%; South Asian 45.7%; Americas 49.7%; Ashkenazi 48.8%; Finnish 44.9%; Middle Eastern 49.3%; Amish 47.1%.
Estimated AG genotype frequency.
Global 27.3%; European 22.8%; African 44.3%; East Asian 8.5%; South Asian 12.5%; Americas 21.1%; Ashkenazi 33.2%; Finnish 11.6%; Middle Eastern 31.5%; Amish 38.5%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 10/10. Source: PMID 17603485. ~1.38x Risk.
PSA Levels. Evidence: 4/10. Source: PMID 21160077. Higher Levels.
Gynecological Cancers
Endometrial Cancer. Evidence: 7/10. Source: PMID 21499250. ~1.19x Risk.
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 8/10. Source: PMID 20581827. Lower Risk.
Showing effects for A/G genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 17603485. Typical.
PSA Levels. Evidence: 4/10. Source: PMID 21160077. Typical.
Endometrial Cancer. Evidence: 7/10. Source: PMID 21499250. Typical.
Type 2 Diabetes. Evidence: 8/10. Source: PMID 20581827. Typical.
Showing effects for G/G genotype
Type 2 Diabetes. Evidence: 8/10. Source: PMID 20581827. ~1.14x Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Prostate cancer risk is elevated by approximately 1.38 times in those with two copies of the A allele [1]. This association is particularly pronounced in early-onset cases of prostate cancer [2]. Additionally, this genotype is linked to a 1.19-fold increase in the risk of endometrial cancer [3]. However, the same genetic profile is associated with a significantly lower risk of developing type 2 diabetes [1]. This biological trade-off is thought to stem from how the HNF1B gene regulates tissue development and insulin sensitivity [4]. Consequently, while metabolic health may be favored, proactive cancer screenings and awareness are particularly relevant for individuals with this genetic profile [5].
Increased risk of prostate cancer; Increased risk of endometrial cancer; Decreased risk of type 2 diabetes.
Sample genotype: AG (Heterozygous)
A balanced genetic profile is created by the heterozygous combination of one cancer-risk allele and one diabetes-risk allele [1]. Large-scale association studies indicate that individuals with this profile do not experience the elevated prostate cancer risk associated with the A/A genotype [1]. Similarly, the risk for type 2 diabetes is not significantly increased compared to the general population [2]. This baseline status means that standard health guidelines and routine screenings are appropriate [3]. The balanced nature of this genotype highlights the complex, multi-allelic control of metabolic and oncological pathways governed by the HNF1B gene [4].
Typical baseline risk for prostate cancer; Typical baseline risk for type 2 diabetes.
Sample genotype: GG (Homozygous)
Type 2 diabetes susceptibility is increased by approximately 1.14-fold under this specific genetic profile [1]. This metabolic risk is linked to how the G allele affects HNF1B gene expression and insulin secretion pathways [2]. However, this same genetic profile is highly protective against hormone-sensitive cancers [3]. Specifically, carrying two copies of the G allele is associated with a significantly lower risk of developing prostate cancer [3] and endometrial cancer [4]. This classic genetic trade-off demonstrates how a single nucleotide change can have opposing effects on metabolic and oncological health [3].
Increased risk of type 2 diabetes; Decreased risk of prostate cancer; Decreased risk of endometrial cancer.
Variants with shared genetic architecture
rs11649743 · HNF1B Gene · Chr 17 · Prostate Cancer Risk
rs17138478 · HNF1B Gene · Chr 17 · Stomach Cancer Risk
rs7501939 · HNF1B Gene · Chr 17 · Prostate Cancer and Diabetes
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
Prenatal diagnosis of HNF1b mutation allows recognition of neonatal dysglycemia.
Early onset prostate cancer has a significant genetic component.
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