Methylation
High follow-up priorityMTHFR 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.
Sample Report
A structured review of pathway-level genetic signals and the biomarkers most useful for validation.
Summary
Start with the pathways most worth validating first. Detailed SNP evidence stays lower on the page.
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.
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.
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.
Pathway
This sample shows a concentrated pattern of methylation-related signals, led by MTHFR and supported by SHMT1, MTRR, BHMT.
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.
Worth early follow-up because the signal is concentrated, biologically coherent, and directly testable.
Analyst Layer
| Gene | Contribution | Confidence | Why it matters |
|---|---|---|---|
| MTHFR | Primary driver | High | Multiple 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. |
| SHMT1 | Supporting driver | Medium | SHMT1 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. |
| MTRR | Supporting driver | Medium | MTRR 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. |
| BHMT | Supporting driver | Medium | BHMT 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. |
Primary driver · High confidence
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs1801131 (A1298C) | GT | Decrease signal | Strong evidence | Secondary folate-cycle variant often reviewed alongside C677T. Best interpreted with pathway context and the recommended validation markers. |
| rs4846051 (MTHFR supporting signal) | AA | Increase signal | Supporting evidence | Additional reviewed variant used to widen gene-level interpretation. Best interpreted with pathway context and the recommended validation markers. |
| rs1801133 (C677T) | AG | Decrease signal | Weak evidence | Common folate-conversion variant used in methylation interpretation. Best interpreted with pathway context and the recommended validation markers. |
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs2066470 (MTHFR regulatory signal) | GG | No interpreted effect in this sample | Not detected | Reviewed for absence only. It does not currently help explain the pathway signal. |
Supporting driver · Medium confidence
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs1979277 (SHMT1 C1420T) | AG | Increase signal | Supporting evidence | Frequently reviewed SHMT1 variant in one-carbon metabolism. Best interpreted with pathway context and the recommended validation markers. |
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs9909104 (SHMT1 supporting signal) | Missing | Variant missing from upload | Missing in upload | This variant was not available in the uploaded file. |
Supporting driver · Medium confidence
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs1801394 (A66G) | GG | Decrease signal | Supporting evidence | Commonly reviewed MTRR variant affecting B12 recycling context. Best interpreted with pathway context and the recommended validation markers. |
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs162036 (MTRR supporting signal) | AA | No interpreted effect in this sample | Not detected | Reviewed for absence only. It does not currently help explain the pathway signal. |
| rs1532268 (MTRR supporting signal) | CT | No directional interpretation assigned yet | Unscored | Keep as supporting context only until a directional interpretation is assigned. |
Supporting driver · Medium confidence
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs3733890 (BHMT-742G>A) | AA | Decrease signal | Supporting evidence | Common BHMT variant used in methylation backup-pathway review. Best interpreted with pathway context and the recommended validation markers. |
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs651852 (BHMT supporting signal) | CC | No interpreted effect in this sample | Not detected | Reviewed for absence only. It does not currently help explain the pathway signal. |
| rs567754 (BHMT supporting signal) | CC | No interpreted effect in this sample | Not detected | Reviewed for absence only. It does not currently help explain the pathway signal. |
Reviewed, not contributory
This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.
Reviewed, not contributory
This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.
Reviewed, not contributory
This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.
Reviewed, not contributory
This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.
Pathway
This sample shows a concentrated pattern of glucose-related signals, led by TCF7L2 and supported by IRS1, LEPR, ADIPOQ.
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.
Worth early follow-up because the signal is concentrated, biologically coherent, and directly testable.
Analyst Layer
| Gene | Contribution | Confidence | Why it matters |
|---|---|---|---|
| TCF7L2 | Supporting driver | Medium | TCF7L2 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. |
| IRS1 | Supporting driver | Low | IRS1 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. |
| LEPR | Minor contributor | Low | LEPR 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. |
| ADIPOQ | Minor contributor | Low | ADIPOQ 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. |
Supporting driver · Medium confidence
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs7903146 (TCF7L2 primary signal) | TT | The best-known TCF7L2 glucose-regulation signal. Commonly tracked as higher glucose-dysregulation risk in pathway-based reviews. | Supporting evidence | Most common TCF7L2 SNP used in glucose-regulation genetics. Best interpreted with pathway context and the recommended validation markers. |
| rs12255372 (TCF7L2 supporting signal) | GT | Supporting TCF7L2 signal frequently reviewed with rs7903146 in glucose-handling interpretation. | Weak evidence | Supporting TCF7L2 SNP often reviewed with rs7903146. Best interpreted with pathway context and the recommended validation markers. |
Supporting driver · Low confidence
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs2943641 (IRS1 insulin-response signal) | CC | Commonly tracked as lower insulin-signaling efficiency relative to the alternate allele. Best treated as a glucose-handling follow-up signal. | Weak evidence | Frequently reviewed IRS1 SNP for insulin signaling context. Best interpreted with pathway context and the recommended validation markers. |
| rs7578326 (IRS1 supporting signal) | AA | Supporting IRS1 signal sometimes associated with weaker insulin-response handling. Use as a secondary directional hint only. | Weak evidence | Supporting IRS1 SNP for broader glucose-handling review. Best interpreted with pathway context and the recommended validation markers. |
Minor contributor · Low confidence
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs1137101 (Q223R) | GG | Common LEPR variant often tracked as lower satiety efficiency or higher leptin-resistance tendency. Interpret as an appetite-regulation hint. | Weak evidence | Common LEPR SNP used in satiety and leptin-response interpretation. Best interpreted with pathway context and the recommended validation markers. |
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs1137100 (K109R) | Missing | Variant missing from upload | Missing in upload | This variant was not available in the uploaded file. |
Minor contributor · Low confidence
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs1501299 (ADIPOQ +276G>T) | GT | Commonly tracked as lower adiponectin support relative to the alternate allele. Use cautiously as a metabolic-flexibility hint. | Weak evidence | Common adiponectin-related SNP used in insulin-sensitivity context. Best interpreted with pathway context and the recommended validation markers. |
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs2241766 (ADIPOQ +45T>G) | TT | No interpreted effect in this sample | Not detected | Reviewed for absence only. It does not currently help explain the pathway signal. |
Reviewed, not contributory
This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.
Pathway
This sample shows a concentrated pattern of histamine-related signals, led by HNMT and supported by DAO, FUT2.
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.
Worth checking after the strongest pathways, especially if symptoms or existing labs point in the same direction.
Analyst Layer
| Gene | Contribution | Confidence | Why it matters |
|---|---|---|---|
| HNMT | Minor contributor | Low | HNMT 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. |
| DAO | Minor contributor | Low | DAO 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. |
| FUT2 | Minor contributor | Low | FUT2 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. |
Minor contributor · Low confidence
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs1050891 (HNMT supporting signal) | AA | Supporting HNMT signal sometimes used in broader histamine and methylation-overlap interpretation. | Weak evidence | Supporting HNMT SNP for broader histamine review. Best interpreted with pathway context and the recommended validation markers. |
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs11558538 (Thr105Ile) | CC | No interpreted effect in this sample | Not detected | Reviewed for absence only. It does not currently help explain the pathway signal. |
Minor contributor · Low confidence
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs1049793 (DAO supporting signal) | CG | Supporting DAO signal commonly grouped into reduced clearance discussions. Best interpreted with symptoms and exposure context. | Weak evidence | Additional DAO SNP used in histamine-related review. Best interpreted with pathway context and the recommended validation markers. |
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs2052129 (DAO regulatory signal) | GG | No interpreted effect in this sample | Not detected | Reviewed for absence only. It does not currently help explain the pathway signal. |
| rs1049742 (DAO supporting signal) | Missing | Variant missing from upload | Missing in upload | This variant was not available in the uploaded file. |
| rs10156191 (DAO supporting signal) | CC | No interpreted effect in this sample | Not detected | Reviewed for absence only. It does not currently help explain the pathway signal. |
Minor contributor · Low confidence
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs602662 (FUT2 supporting signal) | AG | Supporting FUT2 signal used in secretor-status and gut-context interpretation. Treat as a secondary histamine-context signal. | Weak evidence | Supporting FUT2 SNP for broader gut-related context. Best interpreted with pathway context and the recommended validation markers. |
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs601338 (Secretor-status signal) | Missing | Variant missing from upload | Missing in upload | This variant was not available in the uploaded file. |
Pathway
This sample shows a concentrated pattern of lipids-related signals, led by ADIPOQ.
ADIPOQ is the main contributor in this section based on the current sample, making lipids the clearest area to validate next.
Useful for context, but not something to act on early unless other evidence pushes it up the list.
Analyst Layer
| Gene | Contribution | Confidence | Why it matters |
|---|---|---|---|
| ADIPOQ | Minor contributor | Low | ADIPOQ 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. |
Minor contributor · Low confidence
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs1501299 (ADIPOQ +276G>T) | GT | Commonly tracked as lower adiponectin support relative to the alternate allele. Use cautiously as a metabolic-flexibility hint. | Weak evidence | Adiponectin-related SNP often reviewed in lipid and insulin context. Best interpreted with pathway context and the recommended validation markers. |
| Variant | Your genotype | Interpreted effect | Evidence strength | Practical note |
|---|---|---|---|---|
| rs2241766 (ADIPOQ +45T>G) | TT | No interpreted effect in this sample | Not detected | Reviewed for absence only. It does not currently help explain the pathway signal. |
Reviewed, not contributory
This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.
Reviewed, not contributory
This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.
Reviewed, not contributory
This gene was reviewed, but it does not currently drive the pathway-level interpretation in this sample.