Specialized findings¶

Not a medical test — for research and educational use only

Yeliztli analyses consumer genotyping-array data (23andMe / AncestryDNA), which is not a clinical-grade test. Results are not diagnostic, are not clinically validated, and must not be used to make medical decisions. Array data is especially unreliable for rare, disease-causing variants. Always confirm any finding with an accredited clinical laboratory and discuss it with a qualified clinician or genetic counsellor before acting on it. See the Intended use & disclaimers page for the details and the evidence behind this warning.

These condition-specific modules run automatically but don't have their own dashboard page — their findings appear in the Findings Explorer. Each looks at a small, well-defined set of variants.

Hereditary haemochromatosis¶

Genes/variants: HFE C282Y (rs1800562), H63D (rs1799945). Classifies your HFE genotype (e.g. C282Y homozygous, compound heterozygous) for hereditary iron overload, with sex-stratified penetrance text. Most people with these genotypes are never diagnosed (≈88% of men, ≈97% of women with C282Y/C282Y in one large cohort), and compound-heterozygous calls are phase-inferred from unphased array data.

Inherited thrombophilia¶

Genes/variants: Factor V Leiden (F5 rs6025), Prothrombin G20210A (F2 rs1799963). Reports your combined genotype with odds ratios and absolute-risk context (risk rises mainly around triggers such as hormones, pregnancy, surgery, or immobility). This is a relative-risk module — absolute lifetime risk for most carriers stays low, and asymptomatic carriers are not routinely anticoagulated.

Alpha-1 antitrypsin deficiency¶

Gene/variants: SERPINA1 Pi*Z (rs28929474), Pi*S (rs17580). Reports PiZZ / PiSZ / PiSS / PiMZ / PiMS combinations with smoking and clinical-context notes. The array types only Pi*Z and Pi*S, so rarer deficiency alleles aren't detected, and PiSZ is phase-inferred.

Genes/variants: CFH Y402H (rs1061170), ARMS2/HTRA1 (rs10490924). Reports common risk-allele combinations with odds ratios and absolute-risk caveats. These are common GWAS variants (not pathogenic mutations), so evidence is capped; actual AMD risk also depends on age, smoking, and ~50 other variants.

APOL1 kidney risk¶

Gene/variants: APOL1 G1 (rs73885319, rs60910145), G2 (rs71785313), with an N264K modifier. A recessive-style risk model (two risk alleles = high risk) validated primarily in African-ancestry populations; results are ancestry-gated and partial genotypes are never reported as falsely low-risk.

Gout & serum urate¶

Genes/variants: ABCG2 Q141K (rs2231142), SLC2A9 (rs13129697). Reports urate-transporter risk genotypes with ancestry-stratified odds ratios (the ABCG2 effect is larger in East-Asian ancestry). Gout is multifactorial and most carriers never develop it; the module gives no dietary or treatment advice.

Leber hereditary optic neuropathy (LHON)¶

Variants: mtDNA m.11778G>A, m.3460G>A, m.14484T>C. Reports each of the three primary LHON mutations if detected. Penetrance is incomplete and sex-biased (≈50% of male vs ≈10% of female carriers ever lose vision), inheritance is maternal only, and the array cannot measure heteroplasmy (the fraction of affected mtDNA).

MT-RNR1 (aminoglycoside ototoxicity)¶

Variants: mtDNA m.1555A>G, m.1494C>T, m.1095T>C. Following CPIC's aminoglycoside-avoidance guideline, reports carriers of these 12S-rRNA variants, which raise the risk of hearing loss from aminoglycoside antibiotics. Maternally inherited; heteroplasmy isn't measured; often off-chip, so a negative doesn't rule it out.

G6PD deficiency¶

Gene: G6PD — 13 CPIC-defined deficiency variants (A−, Mediterranean, Canton, and others). An X-linked, sex-aware pharmacogenomic context module: it assigns a phenotype (normal / variable / deficient / indeterminate) and lists high-risk oxidative drugs (e.g. rasburicase, primaquine, dapsone). Array coverage of these variants varies.

BChE (butyrylcholinesterase)¶

Gene/variants: BCHE rs1799807 (atypical), rs1803274 (K-variant). Context-only background on sensitivity to the anaesthetic muscle-relaxants succinylcholine and mivacurium. It types only two of many BCHE variants and does not store findings — it's purely interpretive background; true BChE deficiency is confirmed by an enzyme-activity assay with your anaesthesia team.