What you carry at this position in your DNA and what research says about it.
Body Shape and Metabolism: 10/10 evidence, 18 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): G/G
Typical Body Shape and Slightly Higher Diabetes Risk
This genotype is associated with a typical waist-to-hip ratio and height. It carries a slightly higher risk of type 2 diabetes and advanced tumor stages in certain cancers.
What this genotype means: Typical waist-to-hip ratio; Slightly higher risk of type 2 diabetes; Typical kidney health baseline.
Sample genotype (not yours): A/A
Higher Waist-to-Hip Ratio and Lower Diabetes Risk
This genotype is linked to a higher waist-to-hip ratio and increased height. It is associated with a lower risk of type 2 diabetes but a higher risk of certain kidney conditions.
What this genotype means: Higher waist-to-hip ratio; Lower risk of type 2 diabetes; Higher risk of focal segmental glomerulosclerosis.
Sample genotype (not yours): G/A
Intermediate Body Shape and Balanced Metabolic Risks
This genotype represents an intermediate state with subtle influences on body shape and metabolic health. It carries a mix of typical and slightly elevated risks across different traits.
What this genotype means: Intermediate waist-to-hip ratio; Slightly higher risk of type 2 diabetes; Slightly higher kidney risk.
Gene function and biological role
Gene Function: The FGFR4 gene encodes fibroblast growth factor receptor 4, a member of the receptor tyrosine kinase family. This receptor plays a crucial role in cell proliferation, differentiation, and tissue repair. It is particularly important in the liver, where it partners with the co-receptor beta-klotho to regulate bile acid synthesis [1]. FGFR4 signaling also influences metabolic pathways, including lipid homeostasis and glucose metabolism [2]. Variations in this gene have been studied for their roles in body fat distribution and cancer progression.
Variant Impact: The rs1966265 variant is a missense mutation in the second exon of the FGFR4 gene, resulting in a change from valine to isoleucine at codon 10 (p.Val10Ile). This amino acid substitution occurs in the signal peptide of the receptor, potentially altering its cellular trafficking or stability. The alteration has been associated with differences in body fat distribution, height, and metabolic traits [3]. It also interacts with other genetic variants to influence bile acid excretion and colonic transit [1].
Key Insight: This variant affects a receptor that acts as a sensor for bile acids, linking digestive health directly to systemic fat distribution and metabolic rate.
Location: FGFR4. Chromosome 5 · 5q35.2 · 177.1 Mb
Estimated prevalence by population
Global 66.2%; European 59.2%; African 89.4%; East Asian 23.2%; South Asian 58.4%; Americas 55.2%; Ashkenazi 68.9%; Finnish 59.3%; Middle Eastern 83.1%; Amish 54.9%.
Estimated GG genotype frequency.
Global 29.1%; European 35.5%; African 10.3%; East Asian 49.9%; South Asian 36.0%; Americas 38.2%; Ashkenazi 28.2%; Finnish 35.4%; Middle Eastern 16.1%; Amish 38.4%.
Estimated GA genotype frequency.
Global 4.7%; European 5.3%; African 0.3%; East Asian 26.9%; South Asian 5.6%; Americas 6.6%; Ashkenazi 2.9%; Finnish 5.3%; Middle Eastern 0.8%; Amish 6.7%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Obesity & Body Composition
Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 30778226. Typical.
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 7/10. Source: PMID 34594039. Slightly Higher Risk.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 10/10. Source: PMID 36224396. Typical.
Organ Systems
Kidney Function & Disease
Kidney Health. Evidence: 3/10. Source: PMID 36623684. Typical Risk.
Cancer & Oncology
Cancer Prognosis & Treatment Outcome
Cancer Severity. Evidence: 3/10. Source: PMID 31878098. Higher Severity Risk.
Showing effects for A/A genotype
Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 30778226. Higher.
Type 2 Diabetes. Evidence: 7/10. Source: PMID 34594039. Typical Risk.
Height. Evidence: 10/10. Source: PMID 36224396. Taller.
Kidney Health. Evidence: 3/10. Source: PMID 36623684. Higher Risk.
Cancer Severity. Evidence: 3/10. Source: PMID 31878098. Typical.
Showing effects for G/A genotype
Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 30778226. Slightly Higher.
Height. Evidence: 10/10. Source: PMID 36224396. Slightly Taller.
Kidney Health. Evidence: 3/10. Source: PMID 36623684. Slightly Higher Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele is associated with a baseline body shape and typical height [1]. Research indicates a slight increase in susceptibility to type 2 diabetes compared to carriers of the A allele [2]. In oncology studies, the G allele has been linked to higher tumor stages and grades in patients diagnosed with urothelial cell carcinoma [3]. However, this genotype is associated with a lower risk of focal segmental glomerulosclerosis, a rare kidney condition [4]. Overall, these metabolic and health associations represent minor statistical shifts rather than direct diagnostic outcomes.
Typical waist-to-hip ratio; Slightly higher risk of type 2 diabetes; Typical kidney health baseline.
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele is associated with a higher waist-to-hip ratio and increased waist circumference [1]. Individuals with this genotype also tend to be slightly taller on average [2]. From a metabolic standpoint, this genotype is protective against type 2 diabetes compared to G allele carriers [3]. However, it is linked to an increased risk of focal segmental glomerulosclerosis, a rare kidney disorder [4]. Additionally, some studies suggest the A allele may influence colonic transit and bile acid excretion in irritable bowel syndrome [5].
Higher waist-to-hip ratio; Lower risk of type 2 diabetes; Higher risk of focal segmental glomerulosclerosis.
Sample genotype: GA (Heterozygous)
Having one copy of each allele results in intermediate traits for body fat distribution and height [1]. This genotype is associated with a slightly higher waist-to-hip ratio than the G/G genotype but a lower ratio than the A/A genotype [2]. It also carries a slightly elevated risk of type 2 diabetes due to the presence of the G allele [3]. Conversely, the presence of the A allele is linked to a minor increase in the risk of focal segmental glomerulosclerosis [4]. These subtle genetic influences typically interact with lifestyle factors to determine overall metabolic health.
Intermediate waist-to-hip ratio; Slightly higher risk of type 2 diabetes; Slightly higher kidney risk.
Variants with shared genetic architecture
rs6556301 · FGFR4 Gene · Chr 5 · Body Fat Distribution
rs2011077 · FGFR4 Gene · Chr 5 · Prostate Health Risk
rs351855 · FGFR4 Gene · Chr 5 · Cancer Progression Risk
A cross-population atlas of genetic associations for 220 human phenotypes.
Involvement of FGFR4 Gene Variants on the Clinicopathological Severity in Urothelial Cell Carcinoma.
A saturated map of common genetic variants associated with human height.
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