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Sample Report

DNA Pathway Follow-Up Report

A structured review of pathway-level genetic signals and the biomarkers most useful for validation.

What this report isA pathway-based interpretation of genetic tendencies designed to guide what deserves validation first.
What this report is notA diagnosis or treatment plan. Biomarkers and symptoms determine whether a pathway is active in practice.

Summary

Top follow-up priorities

Start with the pathways most worth validating first. Detailed SNP evidence stays lower on the page.

Methylation

High follow-up priority

MTHFR is the main contributor in this section based on the current sample, making methylation the clearest area to validate next. Additional context comes from SHMT1, MTRR, BHMT.

What to validate next
Homocysteinemethylmalonic acidfolate

Glucose

High follow-up priority

TCF7L2 is the main contributor in this section based on the current sample, making glucose the clearest area to validate next. Additional context comes from IRS1, LEPR, ADIPOQ.

What to validate next
Fasting insulinfasting glucoseHbA1c

Histamine

Moderate follow-up priority

HNMT is the main contributor in this section based on the current sample, making histamine the clearest area to validate next. Additional context comes from DAO, FUT2.

What to validate next
Plasma histamineDAO activitytryptase
Recommended validation markers
Homocysteinemethylmalonic acidfolateFasting insulinfasting glucoseHbA1cPlasma histamineDAO activitytryptase
What not to overreact to
  • Genes that do not currently contribute are reviewed separately and kept out of the main decision layer.
  • Unscored or missing variants are shown only in the evidence appendix and are not treated as equal to directional findings.
  • Background-context pathways should matter only if biomarkers or symptoms support them in practice.

Pathway

Methylation

High follow-up priority
What this may suggest

This sample shows a concentrated pattern of methylation-related signals, led by MTHFR and supported by SHMT1, MTRR, BHMT.

Why it surfaced

MTHFR is the main contributor in this section based on the current sample, making methylation the clearest area to validate next. Additional context comes from SHMT1, MTRR, BHMT.

What to validate
Homocysteinemethylmalonic acidfolate
How strongly to care

Worth early follow-up because the signal is concentrated, biologically coherent, and directly testable.

Analyst Layer

Main contributing genes

Learn more about Methylation
GeneContributionConfidenceWhy it matters
MTHFRPrimary driverHighMultiple SNPs on MTHFR contribute the clearest directional support to the Methylation pathway, making this gene one of the stronger drivers in this section. Most useful validation markers: Homocysteine, methylmalonic acid, folate.
SHMT1Supporting driverMediumSHMT1 adds supporting context within the Methylation pathway and should be interpreted alongside the stronger genes in the pathway. Most useful validation markers: Homocysteine, methylmalonic acid, folate.
MTRRSupporting driverMediumMTRR adds supporting context within the Methylation pathway and should be interpreted alongside the stronger genes in the pathway. Most useful validation markers: Homocysteine, methylmalonic acid, folate.
BHMTSupporting driverMediumBHMT adds supporting context within the Methylation pathway and should be interpreted alongside the stronger genes in the pathway. Most useful validation markers: Homocysteine, methylmalonic acid, folate.
Evidence appendix

MTHFR

Primary driver · High confidence

VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs1801131 (A1298C)GTDecrease signalStrong evidenceSecondary folate-cycle variant often reviewed alongside C677T. Best interpreted with pathway context and the recommended validation markers.
rs4846051 (MTHFR supporting signal)AAIncrease signalSupporting evidenceAdditional reviewed variant used to widen gene-level interpretation. Best interpreted with pathway context and the recommended validation markers.
rs1801133 (C677T)AGDecrease signalWeak evidenceCommon folate-conversion variant used in methylation interpretation. Best interpreted with pathway context and the recommended validation markers.
Other reviewed variants
VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs2066470 (MTHFR regulatory signal)GGNo interpreted effect in this sampleNot detectedReviewed for absence only. It does not currently help explain the pathway signal.

SHMT1

Supporting driver · Medium confidence

VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs1979277 (SHMT1 C1420T)AGIncrease signalSupporting evidenceFrequently reviewed SHMT1 variant in one-carbon metabolism. Best interpreted with pathway context and the recommended validation markers.
Other reviewed variants
VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs9909104 (SHMT1 supporting signal)MissingVariant missing from uploadMissing in uploadThis variant was not available in the uploaded file.

MTRR

Supporting driver · Medium confidence

VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs1801394 (A66G)GGDecrease signalSupporting evidenceCommonly reviewed MTRR variant affecting B12 recycling context. Best interpreted with pathway context and the recommended validation markers.
Other reviewed variants
VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs162036 (MTRR supporting signal)AANo interpreted effect in this sampleNot detectedReviewed for absence only. It does not currently help explain the pathway signal.
rs1532268 (MTRR supporting signal)CTNo directional interpretation assigned yetUnscoredKeep as supporting context only until a directional interpretation is assigned.

BHMT

Supporting driver · Medium confidence

VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs3733890 (BHMT-742G>A)AADecrease signalSupporting evidenceCommon BHMT variant used in methylation backup-pathway review. Best interpreted with pathway context and the recommended validation markers.
Other reviewed variants
VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs651852 (BHMT supporting signal)CCNo interpreted effect in this sampleNot detectedReviewed for absence only. It does not currently help explain the pathway signal.
rs567754 (BHMT supporting signal)CCNo interpreted effect in this sampleNot detectedReviewed for absence only. It does not currently help explain the pathway signal.
Reviewed but not driving

TCN2

Reviewed, not contributory

This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.

PEMT

Reviewed, not contributory

This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.

COMT

Reviewed, not contributory

This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.

CBS

Reviewed, not contributory

This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.

Pathway

Glucose

High follow-up priority
What this may suggest

This sample shows a concentrated pattern of glucose-related signals, led by TCF7L2 and supported by IRS1, LEPR, ADIPOQ.

Why it surfaced

TCF7L2 is the main contributor in this section based on the current sample, making glucose the clearest area to validate next. Additional context comes from IRS1, LEPR, ADIPOQ.

What to validate
Fasting insulinfasting glucoseHbA1c
How strongly to care

Worth early follow-up because the signal is concentrated, biologically coherent, and directly testable.

Analyst Layer

Main contributing genes

Learn more about Glucose
GeneContributionConfidenceWhy it matters
TCF7L2Supporting driverMediumTCF7L2 adds supporting context within the Glucose pathway and should be interpreted alongside the stronger genes in the pathway. Most useful validation markers: Fasting insulin, fasting glucose, HbA1c.
IRS1Supporting driverLowIRS1 adds supporting context within the Glucose pathway and should be interpreted alongside the stronger genes in the pathway. Most useful validation markers: Fasting insulin, fasting glucose, HbA1c.
LEPRMinor contributorLowLEPR adds minor context to the Glucose pathway, but it does not drive the pathway on its own. Most useful validation markers: Fasting insulin, fasting glucose, HbA1c.
ADIPOQMinor contributorLowADIPOQ adds minor context to the Glucose pathway, but it does not drive the pathway on its own. Most useful validation markers: Fasting insulin, fasting glucose, HbA1c.
Evidence appendix

TCF7L2

Supporting driver · Medium confidence

VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs7903146 (TCF7L2 primary signal)TTThe best-known TCF7L2 glucose-regulation signal. Commonly tracked as higher glucose-dysregulation risk in pathway-based reviews.Supporting evidenceMost common TCF7L2 SNP used in glucose-regulation genetics. Best interpreted with pathway context and the recommended validation markers.
rs12255372 (TCF7L2 supporting signal)GTSupporting TCF7L2 signal frequently reviewed with rs7903146 in glucose-handling interpretation.Weak evidenceSupporting TCF7L2 SNP often reviewed with rs7903146. Best interpreted with pathway context and the recommended validation markers.

IRS1

Supporting driver · Low confidence

VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs2943641 (IRS1 insulin-response signal)CCCommonly tracked as lower insulin-signaling efficiency relative to the alternate allele. Best treated as a glucose-handling follow-up signal.Weak evidenceFrequently reviewed IRS1 SNP for insulin signaling context. Best interpreted with pathway context and the recommended validation markers.
rs7578326 (IRS1 supporting signal)AASupporting IRS1 signal sometimes associated with weaker insulin-response handling. Use as a secondary directional hint only.Weak evidenceSupporting IRS1 SNP for broader glucose-handling review. Best interpreted with pathway context and the recommended validation markers.

LEPR

Minor contributor · Low confidence

VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs1137101 (Q223R)GGCommon LEPR variant often tracked as lower satiety efficiency or higher leptin-resistance tendency. Interpret as an appetite-regulation hint.Weak evidenceCommon LEPR SNP used in satiety and leptin-response interpretation. Best interpreted with pathway context and the recommended validation markers.
Other reviewed variants
VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs1137100 (K109R)MissingVariant missing from uploadMissing in uploadThis variant was not available in the uploaded file.

ADIPOQ

Minor contributor · Low confidence

VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs1501299 (ADIPOQ +276G>T)GTCommonly tracked as lower adiponectin support relative to the alternate allele. Use cautiously as a metabolic-flexibility hint.Weak evidenceCommon adiponectin-related SNP used in insulin-sensitivity context. Best interpreted with pathway context and the recommended validation markers.
Other reviewed variants
VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs2241766 (ADIPOQ +45T>G)TTNo interpreted effect in this sampleNot detectedReviewed for absence only. It does not currently help explain the pathway signal.
Reviewed but not driving

FTO

Reviewed, not contributory

This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.

Pathway

Histamine

Moderate follow-up priority
What this may suggest

This sample shows a concentrated pattern of histamine-related signals, led by HNMT and supported by DAO, FUT2.

Why it surfaced

HNMT is the main contributor in this section based on the current sample, making histamine the clearest area to validate next. Additional context comes from DAO, FUT2.

What to validate
Plasma histamineDAO activitytryptase
How strongly to care

Worth checking after the strongest pathways, especially if symptoms or existing labs point in the same direction.

Analyst Layer

Main contributing genes

Learn more about Histamine
GeneContributionConfidenceWhy it matters
HNMTMinor contributorLowHNMT adds minor context to the Histamine pathway, but it does not drive the pathway on its own. Most useful validation markers: Plasma histamine, DAO activity, tryptase.
DAOMinor contributorLowDAO adds minor context to the Histamine pathway, but it does not drive the pathway on its own. Most useful validation markers: Plasma histamine, DAO activity, tryptase.
FUT2Minor contributorLowFUT2 adds minor context to the Histamine pathway, but it does not drive the pathway on its own. Most useful validation markers: Plasma histamine, DAO activity, tryptase.
Evidence appendix

HNMT

Minor contributor · Low confidence

VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs1050891 (HNMT supporting signal)AASupporting HNMT signal sometimes used in broader histamine and methylation-overlap interpretation.Weak evidenceSupporting HNMT SNP for broader histamine review. Best interpreted with pathway context and the recommended validation markers.
Other reviewed variants
VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs11558538 (Thr105Ile)CCNo interpreted effect in this sampleNot detectedReviewed for absence only. It does not currently help explain the pathway signal.

DAO

Minor contributor · Low confidence

VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs1049793 (DAO supporting signal)CGSupporting DAO signal commonly grouped into reduced clearance discussions. Best interpreted with symptoms and exposure context.Weak evidenceAdditional DAO SNP used in histamine-related review. Best interpreted with pathway context and the recommended validation markers.
Other reviewed variants
VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs2052129 (DAO regulatory signal)GGNo interpreted effect in this sampleNot detectedReviewed for absence only. It does not currently help explain the pathway signal.
rs1049742 (DAO supporting signal)MissingVariant missing from uploadMissing in uploadThis variant was not available in the uploaded file.
rs10156191 (DAO supporting signal)CCNo interpreted effect in this sampleNot detectedReviewed for absence only. It does not currently help explain the pathway signal.

FUT2

Minor contributor · Low confidence

VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs602662 (FUT2 supporting signal)AGSupporting FUT2 signal used in secretor-status and gut-context interpretation. Treat as a secondary histamine-context signal.Weak evidenceSupporting FUT2 SNP for broader gut-related context. Best interpreted with pathway context and the recommended validation markers.
Other reviewed variants
VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs601338 (Secretor-status signal)MissingVariant missing from uploadMissing in uploadThis variant was not available in the uploaded file.

Pathway

Lipids

Background context
What this may suggest

This sample shows a concentrated pattern of lipids-related signals, led by ADIPOQ.

Why it surfaced

ADIPOQ is the main contributor in this section based on the current sample, making lipids the clearest area to validate next.

What to validate
ApoBtriglyceridesLDL-C
How strongly to care

Useful for context, but not something to act on early unless other evidence pushes it up the list.

Analyst Layer

Main contributing genes

Learn more about Lipids
GeneContributionConfidenceWhy it matters
ADIPOQMinor contributorLowADIPOQ adds minor context to the Lipids pathway, but it does not drive the pathway on its own. Most useful validation markers: ApoB, triglycerides, LDL-C.
Evidence appendix

ADIPOQ

Minor contributor · Low confidence

VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs1501299 (ADIPOQ +276G>T)GTCommonly tracked as lower adiponectin support relative to the alternate allele. Use cautiously as a metabolic-flexibility hint.Weak evidenceAdiponectin-related SNP often reviewed in lipid and insulin context. Best interpreted with pathway context and the recommended validation markers.
Other reviewed variants
VariantYour genotypeInterpreted effectEvidence strengthPractical note
rs2241766 (ADIPOQ +45T>G)TTNo interpreted effect in this sampleNot detectedReviewed for absence only. It does not currently help explain the pathway signal.
Reviewed but not driving

PPARG

Reviewed, not contributory

This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.

PPARA

Reviewed, not contributory

This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.

APOE

Reviewed, not contributory

This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.

Interpretation guardrail

Use the report to decide what deserves follow-up

How to use it

Start with the top pathway, validate the recommended markers, and only then decide whether the genetic signal matters in practice.

What to ignore for now

Do not treat collapsed background context, absent variants, or unscored rows as equal to the main pathway drivers.

  • This report is educational and not medical advice.
  • Pathway summaries aggregate gene-level signals, and gene summaries aggregate SNP-level evidence.
  • Clinical decisions should be validated with biomarkers and a licensed clinician.