What a report actually looks like

Six stops through a live render. Every region below is the report engine itself, not a picture of one. See the complete report if you would rather read every panel at once.

What every stop below sits on: 1,042 panel regions of GRCh38, inside which ClinVar 2026-07 lists 482,198 classified variants. That is the examined set; what we analyse lists what is reported from it, by name.

Your report opens on one summary

The summary leads with what each panel found rather than a verdict on it, so the shape of the whole report fits on one screen. The file behind this sample was built to light up every module, and it fills more of the grid than an ordinary genome would.

One thing worth a conversation

Every finding shows the strength of the evidence and the size of the effect next to the result. That pairing is what separates a variant worth raising with a doctor from one that is merely true.

F2 Prothrombin G20210A thrombophilia ★★☆☆Low: a modest risk factor Discuss with a clinician

Prothrombin G20210A is a common, well-established variant that modestly raises the chance of abnormal blood clots. Like Factor V Leiden, it is a risk factor, not a disease or a diagnosis.

Evidence ★★☆☆ Effect Low: a modest risk factor

Variant: 11:46739505 G>A · rs1799963
Your genotype: heterozygous
ClinVar classification: Pathogenic
ClinVar’s reported condition: Thrombophilia due to thrombin defect
Confidence: ★★☆☆ criteria provided, multiple submitters, no conflicts
Population frequency: common (≥1%) gnomAD AF 0.012
Inheritance: Autosomal dominant (risk factor)

Prothrombin (clotting factor II, the F2 gene) is one of the proteins that lets blood clot. The G20210A variant (rs1799963) sits in a non-coding part of the gene and slightly increases how much prothrombin the body makes. A little more prothrombin means blood clots somewhat more readily than average.

This is a modest risk factor, not a diagnosis. It is one of the two most common inherited clotting variants in people of European ancestry (the other being Factor V Leiden), and the large majority of people who carry one copy never have a clotting problem. As with Factor V Leiden, the variant matters most in situations where the baseline clot risk is already raised: pregnancy, surgery, prolonged immobility, or oestrogen-containing contraception.

Carrying two copies, or carrying it alongside Factor V Leiden or other clotting risk factors, increases the effect further. The fair framing is "a common risk factor worth being aware of", not alarm.

This is a common risk factor, not a clinical diagnosis. If you have a personal or family history of blood clots, discuss it (and this finding) with a doctor before any decision (for example about contraception or clot prevention).

Sources: MedlinePlus Genetics: F2 gene · MedlinePlus Genetics: Prothrombin thrombophilia

The medicine cabinet

Pharmacogenomics changes a real decision more often than any other part of a genome. Clopidogrel is the clearest case: your metaboliser status is a fact a prescriber can use. Why CYP2D6 needs your aligned reads.

CYP2C19 *1/*17 Rapid Metabolizer 87% callable

CYP2C19: CPIC pharmacogenomic guidance, restated. Phenotype is keyed by the called diplotype; drug guidance is CPIC's, quoted and attributed.

from your aligned reads · PyPGx 0.26.0

Your alleles: *1 · *17

In plain terms: This enzyme works faster than typical, so affected medicines may be cleared more quickly than a standard dose assumes, worth a prescriber's awareness.

amitriptyline

Increased metabolism of tertiary amines compared to normal metabolizers; Greater conversion of tertiary amines to secondary amines may affect response or side effects CPIC's combined CYP2C19+CYP2D6 guidance, shown assuming CYP2D6 is typical.

Per CPIC (A): "Consider alternative drug not metabolized by CYP2C19; If amitriptyline is warranted, utilize therapeutic drug monitoring to guide dose adjustment."

citalopram · escitalopram

Increase in metabolism of citalopram and escitalopram to less active compounds when compared to CYP2C19 normal metabolizers. Lower plasma concentrations decrease the probability of clinical benefit.

Per CPIC (A): "Initiate therapy with recommended starting dose. If patient does not adequately respond to recommended maintenance dosing, consider titrating to a higher maintenance dose or switching to a clinically appropriate alternative antidepressant not predominantly metabolized by CYP2C19."

clomipramine

Per CPIC (B): "Consider alternative drug not metabolized by CYP2C19; If clomipramine is warranted, utilize therapeutic drug monitoring to guide dose adjustment."

clopidogrel

Normal or increased clopidogrel active metabolite formation; normal or lower on-treatment platelet reactivity; no association with higher bleeding risk

Per CPIC (A): "If considering clopidogrel, use at standard dose (75 mg/day)"

dexlansoprazole

Decreased plasma concentrations of PPIs compared to CYP2C19 NMs; increased risk of therapeutic failure

Per CPIC (B): "Initiate standard starting daily dose. Consider increasing dose by 50-100% for the treatment of H. pylori infection and erosive esophagitis. Daily dose may be given in divided doses. Monitor for efficacy."

doxepin

Per CPIC (B): "Consider alternative drug not metabolized by CYP2C19; If doxepin is warranted, utilize therapeutic drug monitoring to guide dose adjustment."

imipramine

Per CPIC (B): "Consider alternative drug not metabolized by CYP2C19; If imipramine is warranted, utilize therapeutic drug monitoring to guide dose adjustment."

lansoprazole · omeprazole · pantoprazole

Decreased plasma concentrations of PPIs compared to CYP2C19 NMs; increased risk of therapeutic failure

Per CPIC (A): "Initiate standard starting daily dose. Consider increasing dose by 50-100% for the treatment of H. pylori infection and erosive esophagitis. Daily dose may be given in divided doses. Monitor for efficacy."

sertraline

Small increase in metabolism of sertraline to less active compounds when compared to CYP2C19 normal metabolizers. CPIC's combined CYP2C19+CYP2B6 guidance, shown assuming CYP2B6 is typical.

Per CPIC (A): "Initiate therapy with recommended starting dose."

trimipramine

Per CPIC (B): "Consider alternative drug not metabolized by CYP2C19; If trimipramine is warranted, utilize therapeutic drug monitoring to guide dose adjustment."

voriconazole

In patients for whom a rapid metabolizer genotype (*1/*17) is identified, the probability of attainment of therapeutic concentrations is modest with standard dosing

Per CPIC (A): "Choose an alternative agent that is not dependent on CYP2C19 metabolism as primary therapy in lieu of voriconazole. Such agents include isavuconazole, liposomal amphotericin B, and posaconazole."

CPIC CPIC snapshot 2026-06-13 · CPIC: CYP2C19 (allele functionality, diplotype-phenotype, drug guidance)

What we could not see

A chip array reads a fixed set of common positions. We show which genes that leaves unread, because a blank row is not an all clear. Coverage and callability, explained.

A chip file reaches 7 of the 29 pharmacogenes in Deep Read. The other 22 need aligned reads (BAM or CRAM), which neither a chip export nor a plain VCF carries: ABCB1, ABCG2, ALDH2, BCHE, CACNA1S, CYP1A2, CYP2B6, CYP2C8, CYP2C (rs12777823), CYP2D6, CYP3A4, CYP3A5, F2, F5, G6PD, GRIK4, IFNL3, MTHFR, NAT2, NFIB, TPMT, UGT1A1.

A chip still reports single marked positions inside some of those genes. For most of the 22, what the reads add is star-allele typing: which version of the gene you carry, and that is the call a prescriber acts on.

See the same genome rendered from a chip export

Carrier status, for family planning

Carrier results describe what you could pass on, not what you have. They are the findings people most often take to a clinician. What one copy actually means.

ATP7B Wilson disease carrier Carrier For family planning

You carry one pathogenic change in ATP7B, the gene behind Wilson disease (copper overload).

Variant: 13:51932737 G>A
Your genotype: heterozygous
ClinVar classification: Pathogenic
Confidence: ★★★☆ reviewed by expert panel
Inheritance: Autosomal recessive
Carrier frequency: about 1 in 90 worldwide
Population frequency: gnomAD AF 0.0003

ATP7B makes a protein that moves excess copper out of the liver. When both copies carry a disease-causing change, copper accumulates and damages the liver and brain. This is Wilson disease, which is treatable when found. Your file shows one change on a single copy, so you are a carrier; carriers clear copper normally and do not develop the disease.

Carrier status matters for family planning: if your reproductive partner also carries an ATP7B change, each pregnancy has a 1-in-4 chance of an affected child. (Wilson disease is also on the list of medically actionable genes; that personal-risk framing applies only when both copies are affected, which is not the case here.)

Being a carrier does not affect your own health. This is a literature match from your file, not a diagnostic carrier test. Confirm it with a validated, gene-targeted carrier test and discuss the result with a genetic counselor before any reproductive decision.

Sources: MedlinePlus Genetics: Wilson disease · MedlinePlus Genetics: ATP7B gene

Speculative findings, kept below a firewall

Research grade associations sit in their own tier, labelled speculative and kept apart from the clinical panel, so the two are never read as equals. How the tiers are graded.

ACE Endurance vs power: the ACE 'sport gene' Tags D/D (power-leaning, inferred) Contested

The original 'sport gene': the ACE insertion/deletion has been linked, loosely, to an endurance lean (I) or a power lean (D). We can only INFER it from a nearby tag SNP, and the performance story is contested, a curiosity, never a talent verdict.

Your genotype: G/G (Fitness & performance)
Most-associated reading: Tags D/D (power-leaning, inferred)

Both copies tag the deletion allele: the genotype some studies loosely associate with a power/strength tilt. The link is weak and inferred, not a guarantee of any trait.

How seriously to take this: the evidence

Strength: Contested
Source of the claim: Tag-SNP proxy (rs4343, r²≈0.88 with the I/D in Europeans) for the classic ACE I/D performance literature, which is mixed-to-contested
Effect: Some studies link the ACE I (insertion) allele to a modest endurance lean and the D (deletion) allele to a power/strength lean, but results conflict and effect sizes are tiny. Because rs4343 only tags the actual I/D variant through linkage, any read-out here is a double inference: not a direct measurement. Treat it as a curiosity, not a verdict on athletic type.

ACE encodes angiotensin-converting enzyme, part of the renin-angiotensin system that regulates blood pressure and tissue perfusion. The D-associated allele is loosely tied to higher circulating ACE (hypothesised power/fast-twitch physiology), the I-associated allele to lower ACE (proposed endurance efficiency). The actual causal variant is a 287 bp Alu insertion/deletion that a single-base engine can't type: rs4343 only stands in for it.

Training, recovery, nutrition and sport-specific practice dominate athletic outcomes far more than this variant; single-gene 'sport gene' claims are widely oversold in consumer reports, and this is an inferred, contested one.

What this isn’t: Not a talent test and not a predictor of whether you can become an athlete.

dbSNP: rs4343 · rs4343 as a homogeneous-assay proxy for ACE I/D (PubMed 18057531)

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