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Sample Genetic Report

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Genomic Insight Report

Your Genetic Risk Profile

Based on GWAS Catalog associations with genome-wide significance (p < 5×10⁻⁸). These are statistical estimates, not diagnoses.

Accuracy varies by ancestry: Most GWAS studies were conducted in European-ancestry populations. Scores may be less accurate for other ancestries.
1 high risk
1 moderate risk
2 low risk
2 drug interactions

Type 2 Diabetes Risk

42 variants analysed ·54% coverage

Moderate risk
LowModerateHigh

Your score is higher than an estimated 67% of the population. (estimated)

AI Explanation

Your genetic profile shows a moderate polygenic risk for type 2 diabetes, placing you around the 67th percentile of the population. This means your combined genetic variants contribute somewhat more to diabetes risk than average, but it's far from deterministic. The most notable variant is rs7903146 in the TCF7L2 gene, where you carry one copy of the risk allele T. This is one of the strongest known genetic risk factors for type 2 diabetes, associated with a 37% higher relative risk per copy. TCF7L2 plays a key role in insulin secretion from pancreatic beta cells. You also carry two copies of the risk allele at rs5219 in KCNJ11, a potassium channel gene involved in glucose-stimulated insulin release. It's important to note that these are population-level statistical associations. Your actual risk depends heavily on lifestyle factors — diet, exercise, weight management, and family history matter enormously. Many people with higher genetic risk never develop diabetes, and vice versa. With 42 of 78 known variants analysed (54% coverage), these results give a reasonable but incomplete picture. This is not a diagnosis and should not replace medical advice.

Generated by Claude · Based on GWAS data · Not medical advice

Cardiovascular Disease Risk

35 variants analysed ·56% coverage

Low risk
LowModerateHigh

Your score is higher than an estimated 38% of the population. (estimated)

Alzheimer's Disease Risk

8 variants analysed ·53% coverage

High risk
LowModerateHigh

Your score is higher than an estimated 89% of the population. (estimated)

AI Explanation

Your genetic profile shows elevated risk for Alzheimer's disease, primarily driven by the APOE gene variant rs429358. You carry one copy of the APOE-e4 allele, which is the single strongest common genetic risk factor for late-onset Alzheimer's. Each copy is associated with roughly 3.7 times the risk compared to the common APOE-e3 variant — this is a substantial effect by genetic standards. However, carrying one APOE-e4 copy does not mean you will develop Alzheimer's. Many carriers live into old age without cognitive decline, and many non-carriers do develop it. Emerging research suggests that cardiovascular health, physical activity, cognitive engagement, and sleep quality all influence whether genetic risk translates into disease. With only 8 of 15 known variants analysed (53% coverage) and medium confidence, this estimate is informative but not comprehensive. This is a statistical association, not a clinical prediction, and should be discussed with a healthcare professional.

Generated by Claude · Based on GWAS data · Not medical advice

Lipid Profile

18 variants analysed ·40% coverage

Low risk
LowModerateHigh

Your score is higher than an estimated 52% of the population. (estimated)

Known Pathogenic Variants (ClinVar)

These variants are causally linked to hereditary conditions in clinical databases — distinct from the statistical GWAS associations above.

Important limitation: SNP chips do not provide full gene sequencing. A result here does not confirm a diagnosis, and a missing result does not rule one out. These findings require confirmation by a certified genetic test and interpretation by a medical geneticist.
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Hereditary Cancer Syndromes

1 variant

BRCA2rs80357906Likely pathogenic

Hereditary breast and ovarian cancer syndrome

Your genotype: CT(risk: T)
2

Drug Response (Pharmacogenomics)

Your genetic variants that may affect how you respond to specific medications, based on PharmGKB clinical annotations. Always consult your doctor before changing any medication.

Warfarin·2 variants
Level 1A
Metformin·1 variant
Level 2A
Important: Genetic risk scores reflect population-level statistics from research studies. They do not account for lifestyle, environment, or clinical context. A higher score does not mean you will develop a condition. Do not use this report to make medical decisions — consult a healthcare professional.

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