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health matches

62 matches across 12 subcategories.

autoimmune

Elevated

A tag SNP for the HLA-B27 allele has been detected (one copy).

You carry one copy of the immune system version linked to a specific kind of inflammatory back arthritis.

Carriers of HLA-B27 have substantially elevated lifetime risk of ankylosing spondylitis and related spondyloarthritis, but most carriers (~95%) never develop these conditions.

Your lifetime risk of developing this kind of arthritis is several times higher than average, but about 95 in 100 people with this version never get it.

Elevated

A tag SNP for HLA-DQ2.5 has been detected (one copy).

You carry one copy of the main immune system version linked to celiac disease.

HLA-DQ2.5 is the principal genetic risk factor for celiac disease. Around 90% of people with celiac carry DQ2.5, but only ~3% of DQ2.5 carriers develop celiac.

This is the single biggest genetic factor in celiac disease. About 9 in 10 people with celiac have this version, but only around 3 in 100 people who have it ever develop celiac themselves.

Elevated

A tag SNP for HLA-DQ8 has been detected (one copy).

You carry one copy of the second main immune system version linked to celiac disease.

HLA-DQ8 is the second principal celiac risk haplotype. About 5–10% of celiac patients carry DQ8 without DQ2. Most DQ8 carriers do not develop celiac.

HLA-DQ8 is the second main genetic factor in celiac. Between 5 and 10 in 100 people with celiac have DQ8 but not the more common DQ2 version. Most people with DQ8 never develop celiac.

Mild

One copy of the PTPN22 R620W variant detected.

You have one copy of a DNA change in PTPN22 that subtly nudges several autoimmune risks up.

Associated with modestly elevated lifetime risk of several autoimmune conditions including type 1 diabetes, rheumatoid arthritis, lupus, and Hashimoto's thyroiditis. Effect on any single condition is small.

Your lifetime odds of several autoimmune conditions — type 1 diabetes, rheumatoid arthritis, lupus, and a thyroid condition called Hashimoto's — are slightly higher than average. The bump for any single condition is small.

TNFAIP3 — modest autoimmunity risk

TNFAIP3rs6920220autoimmune
Mild

One copy of the TNFAIP3 autoimmunity risk allele detected.

You have one copy of a DNA change near the TNFAIP3 gene that slightly nudges several autoimmune risks up.

Associated with a small lifetime increase in risk for several autoimmune conditions including rheumatoid arthritis and lupus. Effect on any single condition is small.

Your lifetime odds are slightly higher for several autoimmune conditions, including rheumatoid arthritis and lupus. The bump for any single condition is small.

cardiology

9p21 region — coronary artery disease risk

CDKN2B-AS1rs10757278cardiology
Mild

One copy of the 9p21 risk variant for coronary artery disease.

You have one copy of a DNA change in the 9p21 region that's linked to heart artery disease.

Modestly increased lifetime risk of coronary artery disease (roughly 20% above baseline per copy in European populations). The absolute effect is small relative to lifestyle and cholesterol management.

Your lifetime risk of heart artery disease is roughly 20% above average. The effect is small compared with lifestyle and cholesterol — those still matter much more.

Strong

One copy of the APOB R3527Q variant — familial defective apolipoprotein B.

You have one copy of the APOB R3527Q DNA change — a known inherited cause of high cholesterol.

Associated with lifelong elevated LDL cholesterol and substantially increased lifetime risk of premature coronary artery disease. Highly responsive to statin therapy.

This means you've had higher LDL ("bad") cholesterol since birth and a substantially raised risk of early heart artery disease. The good news is that statins work very well for this.

Elevated

One copy of the LPA rs10455872 G allele detected.

You have one copy of a DNA change in the LPA gene linked to higher Lp(a) levels in your blood.

Strongly associated with higher circulating lipoprotein(a), a lipid particle linked to increased risk of coronary artery disease and aortic stenosis. Effect size is meaningful even in one copy.

This is strongly linked to higher levels of a fatty blood particle called Lp(a), which raises the lifetime risk of heart artery disease and stiffening of the aortic valve. Even one copy makes a meaningful difference.

Elevated

One copy of the LPA rs3798220 C allele detected.

You have one copy of a second LPA DNA change linked to higher Lp(a) levels.

A second well-replicated variant predicting elevated lipoprotein(a). One copy is enough to push Lp(a) above the typical reference range.

This is the second well-studied marker for higher Lp(a). Even one copy is usually enough to push your blood Lp(a) above the typical range.

Mild

One copy of a PCSK9 loss-of-function variant detected.

You have one copy of a PCSK9 DNA change that quietly dials the gene down.

Genuinely good news, on average — associated with lifelong slightly lower LDL cholesterol and a meaningfully reduced risk of coronary artery disease.

This is genuinely good news on average — you've had slightly lower LDL ("bad") cholesterol since birth and a meaningfully lower risk of heart artery disease.

endocrinology

Mild

One copy of the FTO body-weight variant detected.

You have one copy of the FTO version linked to slightly higher body weight on average.

Associated with a small lifetime increase in BMI on average (~0.5 kg per copy in adulthood). Most carriers are not overweight; lifestyle dominates.

On average, people with this version weigh about half a kilogram more in adulthood than people without. Most people with it aren't overweight — your lifestyle has a much bigger effect.

Mild

One copy of the KCNJ11 E23K variant detected.

You have one copy of a common DNA change in KCNJ11 that slightly raises type 2 diabetes risk.

A common variant with a small effect on type 2 diabetes risk. Effect is modest and well overshadowed by lifestyle factors.

A common DNA change with a small effect on type 2 diabetes risk. Lifestyle factors matter far more.

MC4R — appetite regulation variant

MC4Rrs17782313endocrinology
Mild

One copy of the MC4R near-gene risk variant detected.

You have one copy of a DNA change near the MC4R gene linked to slightly higher body weight.

Associated with a small lifetime increase in BMI (~0.2–0.5 kg per copy) and modest increase in appetite. Not deterministic.

On average, people with this version weigh about a quarter to half a kilogram more as adults and tend to feel slightly hungrier. It's a small nudge, not a fate.

Mild

One copy of the PPARG Pro12Ala variant detected.

You have one copy of a DNA change in PPARG that very slightly *lowers* type 2 diabetes risk.

Associated with a small *reduction* in lifetime type 2 diabetes risk (~20% per copy). The protective effect is modest but well replicated.

Your lifetime chance of type 2 diabetes is roughly 20% lower per copy than people without this version. The protective effect is small but consistent across many studies.

TCF7L2 — type 2 diabetes risk variant

TCF7L2rs7903146endocrinology
Mild

One copy of the TCF7L2 type 2 diabetes risk allele detected.

You have one copy of the TCF7L2 version linked to higher type 2 diabetes risk.

Associated with a modest increase in lifetime risk of type 2 diabetes (roughly 40% higher than non-carriers in some studies). Lifestyle factors dominate the picture.

Your lifetime chance of type 2 diabetes is around 40% higher than people without this version in some studies. Lifestyle factors still matter much more than this single result.

gastroenterology

ATG16L1 — autophagy variant tied to Crohn's

ATG16L1rs2241880gastroenterology
Mild

One copy of the ATG16L1 T300A variant detected.

You have one copy of a common ATG16L1 gene change that slightly raises Crohn's disease risk.

A common variant in a gene involved in autophagy; carriers have a small lifetime increase in Crohn's disease risk.

This is a common DNA change in a gene that helps cells clean up bacteria. With one copy, your lifetime Crohn's disease risk is slightly raised.

NOD2 — Crohn's disease risk

NOD2rs2066844gastroenterology
Elevated

One copy of the NOD2 R702W variant detected.

You have one copy of the NOD2 R702W gene change, which modestly raises Crohn's disease risk.

Modestly elevated lifetime risk of Crohn's disease. Most carriers never develop it; smoking is a much stronger lifestyle risk factor for ileal Crohn's.

Your lifetime Crohn's disease risk is modestly raised. Most people with this change never develop Crohn's, and smoking has a much larger effect than this gene change on the type of Crohn's that affects the small intestine.

hematology

Factor V Leiden

F5rs6025hematology
Elevated

One copy of the Factor V Leiden variant detected (heterozygous).

You have one copy of the Factor V Leiden DNA change.

Associated with a roughly 4–7× increased lifetime risk of venous thromboembolism (deep vein thrombosis or pulmonary embolism), though most heterozygotes never experience an event.

Your lifetime risk of a dangerous blood clot (in a deep vein or in the lungs) is roughly 4 to 7 times the average. Even so, most people with one copy never actually have a clot.

Strong

One copy of the sickle cell variant (HbS) — sickle cell trait.

You have one copy of the sickle cell DNA change — known as sickle cell trait.

Sickle cell trait is generally asymptomatic in day-to-day life. It can cause complications under extreme conditions (intense exertion at altitude, severe dehydration) and is critical to know for family-planning conversations.

Sickle cell trait usually causes no symptoms day to day. It can sometimes cause problems in extreme situations — hard exercise at altitude, severe dehydration — and it really matters to know about for family planning.

Read more →Sensitive
Elevated

One copy of HFE C282Y — carrier for hereditary hemochromatosis.

You have one copy of the HFE C282Y DNA change — making you a carrier for hereditary hemochromatosis.

One copy is generally not enough to cause clinical iron overload, though carriers may have very slightly higher iron stores than average.

One copy on its own isn't usually enough to cause real iron overload, though your iron stores might run very slightly higher than average.

HFE H63D

HFErs1799945hematology
Mild

One copy of HFE H63D detected.

You have one copy of the HFE H63D DNA change.

A mild variant in the same hemochromatosis gene as C282Y. On its own, one copy is essentially clinically silent.

This is a mild change in the same gene as C282Y. On its own, one copy makes no real difference to your health.

MTHFR A1298C

MTHFRrs1801131hematology
Informational

One copy of the MTHFR A1298C variant detected.

You have one copy of the MTHFR A1298C DNA change.

A common variant in the same gene as C677T. On its own it produces a smaller reduction in enzyme activity and is not considered clinically actionable.

This is a common DNA change in the same gene as C677T. On its own it only slightly lowers an enzyme's activity and isn't something doctors recommend acting on.

MTHFR C677T

MTHFRrs1801133hematology
Informational

One copy of the MTHFR C677T variant detected.

You have one copy of the MTHFR C677T DNA change.

A common variant that modestly reduces the activity of an enzyme involved in folate metabolism. The clinical significance for healthy adults with adequate folate intake is minimal.

This is a common DNA change that slightly lowers the activity of an enzyme that processes folate. If you eat normally, the real-world impact is minimal.

Prothrombin G20210A

F2rs1799963hematology
Elevated

One copy of the Prothrombin G20210A variant detected (heterozygous).

You have one copy of the Prothrombin G20210A DNA change.

Associated with roughly a 2–3× increased lifetime risk of venous thromboembolism. Most carriers are asymptomatic.

Your lifetime risk of a dangerous blood clot is roughly 2 to 3 times the average. Most people with one copy never actually experience a clot.

immunology

Informational

One copy of the CCR5-Δ32 deletion detected.

You have one copy of the CCR5-Δ32 deletion, a well-known DNA change linked to HIV resistance.

One-copy carriers have somewhat slowed HIV disease progression if infected, but are not protected from acquiring HIV.

If you have one copy, you can still catch HIV, but the disease tends to progress more slowly once it takes hold.

Mild

One copy of the IL23R R381Q protective variant detected.

You have one copy of a protective IL23R gene change that lowers risk of several inflammatory conditions.

Genuinely good news, on average — associated with meaningfully reduced lifetime risk of Crohn's disease, ulcerative colitis, psoriasis, and ankylosing spondylitis.

This is genuinely good news on average — your lifetime risk of Crohn's disease, ulcerative colitis, psoriasis, and ankylosing spondylitis is meaningfully lower than average.

neurology

APOE ε2 allele

APOErs7412neurology
Mild

One copy of the APOE ε2 allele detected.

You have one copy of the APOE ε2 version.

Broadly associated with a *lower* lifetime risk of late-onset Alzheimer's disease compared with the common ε3 form, but with a small increased risk of a lipid disorder called type III hyperlipoproteinemia.

Your lifetime chance of late-onset Alzheimer's is broadly lower than people with the common ε3 form. It comes with a small bump in the chance of a treatable cholesterol-related condition called type III hyperlipoproteinemia.

APOE ε4 allele

APOErs429358neurology
Elevated

One copy of the APOE ε4 allele detected.

You have one copy of the APOE ε4 version.

Associated with a moderately increased lifetime risk of late-onset Alzheimer's disease and with somewhat elevated cardiovascular risk.

Your lifetime chance of late-onset Alzheimer's is moderately higher than average, and your heart disease risk is also somewhat higher.

Informational

One copy of the BDNF Met allele detected (Val/Met).

You have one copy of the Met version of BDNF (and one of the more common Val version).

An intermediate phenotype. Some studies link the Met allele to subtle differences in memory and stress response, but effect sizes are small.

An in-between profile. Some studies link this version to subtle differences in memory and how people handle stress, but the effects are small.

Informational

One copy of the COMT Met allele detected (Val/Met heterozygous).

You have one copy of the Met version of COMT (and one of the more common Val version).

An intermediate phenotype. COMT activity is somewhat reduced compared with Val/Val, leading to slightly higher prefrontal dopamine. Effects on cognition and stress response are small.

An in-between profile. Your COMT enzyme is somewhat less active than people with two Val copies, leaving slightly more dopamine around in a thinking part of the brain. The effects on thinking and stress response are small.

Elevated

One copy of the GBA N370S variant — carrier status for Gaucher disease and an increased Parkinson's risk.

You have one copy of a GBA DNA change — you're a carrier for Gaucher disease and have a higher chance of Parkinson's.

Carriers of one GBA N370S variant are typically asymptomatic for Gaucher disease, but have a several-fold increased lifetime risk of Parkinson's disease compared with non-carriers.

With one copy you don't get Gaucher disease itself, but your lifetime chance of Parkinson's disease is several times higher than average.

Strong

One copy of the LRRK2 G2019S variant detected.

You have one copy of the LRRK2 G2019S DNA change linked to Parkinson's disease.

Associated with a meaningfully increased lifetime risk of Parkinson's disease compared with the general population, though most carriers never develop it.

Your lifetime chance of Parkinson's disease is meaningfully higher than average, but most people with this DNA change never develop it.

Mild

Two copies of the MAPT H1 haplotype.

You have two copies of the H1 version of the MAPT gene region.

Associated with a small lifetime increase in risk for Parkinson's disease and certain rare tauopathies, but the effect is modest relative to lifestyle and age.

Your lifetime chance of Parkinson's disease and some rare brain conditions involving the tau protein is slightly higher than average. The effect is small compared with lifestyle and age.

oncology

Mild

One copy of the 8q24 prostate cancer risk allele.

You have one copy of a common DNA change in a region of chromosome 8 linked to slightly higher prostate cancer risk.

A small lifetime increase in prostate cancer risk. The effect is real but modest, and PSA-driven screening decisions remain the primary lever.

Your lifetime prostate cancer risk is slightly above average. The effect is real but small, and standard PSA-based screening decisions still do the heavy lifting.

Elevated

One copy of the APC I1307K variant detected.

You have one copy of the APC I1307K gene change, which modestly raises colorectal cancer risk.

Associated with a modestly elevated lifetime risk of colorectal cancer (roughly 1.5–2× the baseline). Earlier and more frequent colonoscopy screening is generally recommended.

Your lifetime risk of colorectal cancer is roughly 1.5–2× the average. Starting colonoscopy screening earlier and more often is generally recommended.

Definite

A BRCA1 185delAG variant has been detected.

You have a specific BRCA1 gene change that's well known for raising breast and ovarian cancer risk.

A BRCA1 pathogenic variant is associated with a substantially increased lifetime risk of breast cancer (~55–72%), ovarian cancer (~39–44%), and elevated risks of pancreatic and prostate cancers. Clinical confirmation and consultation with a genetic counsellor are essential before acting on this result.

If you were assigned female at birth, your lifetime risk is around 55–72% for breast cancer and 39–44% for ovarian cancer — several times the population average. Risks for pancreatic and prostate cancer are also raised. Before doing anything with this result, confirm it with a clinical lab and speak to a genetic counsellor.

Read more →Sensitive
Definite

A BRCA1 5382insC variant has been detected.

You have a specific BRCA1 gene change that's well known for raising breast and ovarian cancer risk.

A BRCA1 pathogenic variant associated with substantially elevated lifetime risks of breast and ovarian cancer. Confirmation by a clinical laboratory and consultation with a genetic counsellor are essential.

Your lifetime risk of breast and ovarian cancer is much higher than the population average. Before acting on this, confirm the result with a clinical lab and speak to a genetic counsellor.

Read more →Sensitive
Definite

A BRCA2 6174delT variant has been detected.

You have a specific BRCA2 gene change that's well known for raising breast, ovarian, pancreatic, and prostate cancer risk.

A BRCA2 pathogenic variant associated with substantially elevated lifetime risks of breast (~69%), ovarian (~17%), pancreatic, and prostate cancers. Clinical confirmation and genetic counselling are essential.

If you were assigned female at birth, your lifetime risk is around 69% for breast cancer and 17% for ovarian cancer. Risks for pancreatic and prostate cancer are also raised, and male breast cancer risk is higher than average. Confirm the result with a clinical lab and speak to a genetic counsellor before acting on it.

Read more →Sensitive
Strong

A CHEK2 1100delC variant has been detected.

You have a CHEK2 gene change that meaningfully raises breast cancer risk, plus smaller increases in some other cancers.

Associated with a moderately increased lifetime risk of breast cancer (~25–30% for women), as well as somewhat elevated risks of colorectal, prostate, and other cancers. Enhanced screening is generally recommended.

If you were assigned female at birth, your lifetime breast cancer risk is around 25–30% — about double the population average. Risk of colorectal, prostate, and a few other cancers is also somewhat raised. Most guidelines recommend earlier and more frequent screening.

Read more →Sensitive
Mild

One copy of the MC1R R151C variant — a "red-hair-associated" allele.

You have one copy of a common MC1R gene change linked to red hair, freckling, and fair skin.

Associated with fairer skin, freckling, lower tanning capacity, and a modestly increased lifetime risk of melanoma and other skin cancers.

You're likely to have fairer skin, more freckling, less ability to tan, and a slightly raised lifetime risk of melanoma and other skin cancers.

pharmacogenomics

CYP2C19*17 — increased clopidogrel metabolism

CYP2C19rs12248560pharmacogenomics
Informational

One copy of the CYP2C19*17 increased-function variant detected.

You have one copy of a more-active version of the CYP2C19 gene.

Rapid metabolizer phenotype. Tends toward stronger clopidogrel response (more active drug formed) and faster clearance of some PPIs and antidepressants.

Your body activates clopidogrel a bit more efficiently than average, and clears some heartburn medicines (PPIs) and antidepressants faster too.

CYP2C19*2 — reduced clopidogrel metabolism

CYP2C19rs4244285pharmacogenomics
Elevated

One copy of the CYP2C19*2 loss-of-function variant detected.

You have one working copy and one non-working copy of the CYP2C19 gene.

Intermediate metabolizer status. Reduced activation of clopidogrel (Plavix) and several other drugs. Worth mentioning to a clinician before any cardiology procedure that uses clopidogrel.

Your body activates the blood-thinner clopidogrel (Plavix) and a few other drugs less efficiently than average. Worth mentioning to a doctor before any heart procedure where clopidogrel might be prescribed.

CYP2C9*2 — slower warfarin and NSAID metabolism

CYP2C9rs1799853pharmacogenomics
Elevated

One copy of the CYP2C9*2 reduced-function variant detected.

You have one working copy and one less-active copy of the CYP2C9 gene.

Intermediate warfarin sensitivity. If warfarin is ever prescribed, dose adjustment is typical. NSAIDs and several other drugs are cleared more slowly.

You're modestly more sensitive than average to the blood-thinner warfarin. If you ever need warfarin, your doctor will likely use a lower dose. Common painkillers (NSAIDs) and a few other drugs also leave your system more slowly.

CYP2C9*3 — markedly reduced warfarin metabolism

CYP2C9rs1057910pharmacogenomics
Strong

One copy of the CYP2C9*3 reduced-function variant detected.

You have one working copy and one much-less-active copy of the CYP2C9 gene.

Intermediate to poor metabolizer for warfarin. Dose reduction is typical; clinical INR monitoring is essential.

Your body clears the blood-thinner warfarin much more slowly than average. If you're ever prescribed it, your doctor will reduce the dose and watch your blood-clotting levels (INR) carefully.

Mild

One copy of the CYP2D6*10 reduced-function variant detected.

You have one working copy and one less-active copy of the CYP2D6 gene.

Intermediate CYP2D6 activity. Affects the metabolism of many common drugs including codeine, tramadol, several antidepressants, and tamoxifen.

Your body processes a long list of common medicines a bit more slowly than average — including the painkillers codeine and tramadol, several antidepressants, and the breast-cancer drug tamoxifen.

CYP2D6*4 — reduced metabolism of many drugs

CYP2D6rs3892097pharmacogenomics
Elevated

One copy of the CYP2D6*4 loss-of-function variant detected.

You have one working copy and one non-working copy of the CYP2D6 gene.

Likely intermediate metabolizer. Affects how the body processes a long list of common drugs — codeine, tramadol, tamoxifen, many antidepressants, antipsychotics, and beta-blockers.

You process a long list of common medicines more slowly than average — including the painkillers codeine and tramadol, the breast-cancer drug tamoxifen, many antidepressants and antipsychotics, and some beta-blockers.

Informational

One copy of the CYP3A5*3 non-functional allele detected.

You have one working copy and one non-working copy of the CYP3A5 gene.

Intermediate CYP3A5 activity. Modestly slower clearance of tacrolimus (post-transplant immunosuppressant) and a few other drugs.

Your body clears the transplant medicine tacrolimus a bit more slowly than average — useful information if you ever need an organ transplant.

DPYD*2A — fluoropyrimidine toxicity risk

DPYDrs3918290pharmacogenomics
Strong

One copy of the DPYD*2A loss-of-function variant detected.

You have one working copy and one non-working copy of the DPYD gene.

Intermediate DPD enzyme activity. Standard doses of fluorouracil or capecitabine can cause severe toxicity; substantial dose reduction (often by half) is recommended if these chemotherapies are prescribed.

Two common chemotherapy drugs (fluorouracil and capecitabine) can cause severe side effects at standard doses for you, because your body breaks them down too slowly. If you ever need them, oncologists typically halve the dose. Crucial information to share before any cancer treatment.

Read more →Sensitive

G6PD deficiency — Mediterranean variant

G6PDrs5030868pharmacogenomics
Strong

A G6PD Mediterranean variant has been detected.

You have the Mediterranean version of the G6PD DNA change — a known cause of red-blood-cell sensitivity to certain drugs and foods.

G6PD deficiency causes red blood cell breakdown (hemolysis) when exposed to specific drugs (some antimalarials, sulfa drugs, rasburicase) and to fava beans. The Mediterranean variant is more severe than the African A-/A+ forms. Knowing this status can prevent serious adverse drug reactions.

G6PD deficiency means your red blood cells can break down (haemolysis) when you take certain medicines — including some anti-malaria pills, some "sulfa" antibiotics, and the gout drug rasburicase — or when you eat fava beans. The Mediterranean version is one of the more severe forms. Telling clinicians about this can prevent serious reactions to common drugs.

Read more →Sensitive

HLA-B*57:01 — abacavir hypersensitivity risk

HLA-Brs2395029pharmacogenomics
Strong

A tag SNP for HLA-B*57:01 has been detected.

You carry a DNA marker linked to the HLA-B*57:01 immune system version.

Carriers of HLA-B*57:01 are at substantially elevated risk of severe hypersensitivity reaction to abacavir (an HIV antiretroviral). Abacavir is contraindicated in HLA-B*57:01-positive individuals. If you ever start an HIV regimen, please tell your prescriber.

People with HLA-B*57:01 are at much higher risk of a severe allergic reaction to abacavir, an HIV drug. Doctors don't prescribe abacavir to people with this immune system version. If you ever start treatment for HIV, mention this to your prescriber so they choose a different drug.

Read more →Sensitive

NAT2 slow acetylator — isoniazid metabolism

NAT2rs1799930pharmacogenomics
Mild

One copy of the NAT2*6 slow-acetylator variant detected.

You have one slow-acting copy of the NAT2 gene.

Likely intermediate or slow acetylator status. Slightly slower clearance of isoniazid (TB therapy) and several other drugs. Effect varies; full NAT2 phenotyping requires multiple SNPs.

Your body likely clears the TB drug isoniazid and a few other medicines slightly more slowly than average. The effect is small, and a full picture would need additional DNA testing.

SLCO1B1 — statin-induced muscle pain risk

SLCO1B1rs4149056pharmacogenomics
Elevated

One copy of the SLCO1B1*5 reduced-function variant detected.

You have one working copy and one less-active copy of the SLCO1B1 gene.

Modestly increased risk of statin-induced myopathy (muscle pain or weakness), particularly with simvastatin at high doses. Other statins may be tolerated better.

You have a modestly higher risk of muscle pain or weakness from statins, especially simvastatin at higher doses. Other statins are usually easier to tolerate if you have this version.

TPMT*3C — thiopurine drug sensitivity

TPMTrs1142345pharmacogenomics
Strong

One copy of the TPMT*3C reduced-function variant detected.

You have one working copy and one less-active copy of the TPMT gene.

Intermediate metabolizer for thiopurines (azathioprine, mercaptopurine). Standard doses may cause toxicity (bone marrow suppression); dose reduction is recommended if these drugs are prescribed.

A class of drugs called thiopurines (azathioprine, mercaptopurine) — used for inflammatory bowel disease, autoimmune conditions, and certain leukaemias — can build up to harmful levels at standard doses for you. A lower dose is recommended if you're prescribed any of these.

Mild

One copy of the UGT1A1 reduced-function tag variant detected.

You have one working copy and one less-active copy of the UGT1A1 gene.

Tags reduced UGT1A1 activity, consistent with mildly elevated unconjugated bilirubin (Gilbert syndrome pattern). Largely benign on its own; matters if irinotecan chemotherapy is ever prescribed.

You may have slightly higher bilirubin levels on blood tests — a harmless pattern called Gilbert syndrome. On its own this is no problem. It does matter if you're ever prescribed the chemotherapy drug irinotecan, where your dose may need adjusting.

VKORC1 — warfarin sensitivity

VKORC1rs9923231pharmacogenomics
Elevated

One copy of the VKORC1 -1639G>A high-sensitivity variant detected.

You have one copy of the high-sensitivity version of the VKORC1 gene.

Intermediate warfarin sensitivity. Lower warfarin doses are typically needed to reach a therapeutic INR.

You're more sensitive than average to the blood-thinner warfarin. If you ever take it, your doctor will use a lower dose to get to the same level of blood-thinning.

renal

Elevated

One copy of the APOL1 G1 risk allele detected.

You have one copy of the APOL1 G1 kidney risk version. On its own, one copy doesn't meaningfully raise your risk.

One copy alone does not meaningfully elevate kidney disease risk. The clinical effect emerges with two risk alleles (G1/G1, G1/G2, or G2/G2).

One copy on its own doesn't meaningfully raise your kidney disease risk. The clinical effect only really shows up when you carry two risk copies in any combination (G1/G1, G1/G2, or G2/G2).

Read more →Sensitive
Elevated

An APOL1 G2 allele has been detected.

You have at least one copy of the APOL1 G2 kidney risk version.

The G2 allele is one of two APOL1 risk variants whose effect emerges in pairs. Inheriting two risk alleles (G1/G1, G1/G2, or G2/G2) substantially increases lifetime risk of several forms of kidney disease. One copy alone does not meaningfully raise risk.

G2 is one of two APOL1 risk versions whose effect only really shows up when you have two copies in any combination (G1/G1, G1/G2, or G2/G2). With two risk copies, your lifetime risk of certain kidney diseases is substantially higher. One copy alone doesn't meaningfully raise risk.

Read more →Sensitive
Mild

One copy of the UMOD promoter risk allele detected.

You have one copy of a common UMOD gene change linked to slightly higher blood pressure and kidney disease risk.

A small increase in lifetime risk of hypertension and chronic kidney disease. The effect is modest and overshadowed by blood pressure control and metabolic health.

Your lifetime risk of high blood pressure and chronic kidney disease is slightly higher than average. The effect is small, and managing your blood pressure and metabolic health matters far more.

respiratory

Mild

One copy of the SERPINA1 PI*S variant detected.

You have one copy of the SERPINA1 S version. On its own, this rarely causes any symptoms.

PI*MS heterozygotes are essentially asymptomatic. Lung function is typically normal.

With one S copy and one normal copy, you almost certainly have no symptoms and normal lung function.

Strong

One copy of the SERPINA1 PI*Z variant — Alpha-1 antitrypsin deficiency carrier.

You have one copy of the SERPINA1 Z version, making you a carrier for alpha-1 antitrypsin deficiency.

Heterozygous PI*MZ carriers are usually asymptomatic but have somewhat lower circulating Alpha-1 antitrypsin and a slightly increased lifetime risk of COPD, especially if they smoke.

With one Z copy and one normal copy, you usually have no symptoms, but the level of alpha-1 antitrypsin in your blood is a bit lower than normal and your lifetime risk of COPD is slightly raised — especially if you smoke.

Read more →Sensitive

sensory

Elevated

One copy of the ABCA4 G1961E variant detected.

You have one copy of the ABCA4 G1961E gene change, making you a carrier for Stargardt disease.

Carrier status for Stargardt disease (juvenile macular degeneration). Heterozygotes are typically unaffected. May be relevant for family planning.

This makes you a carrier for Stargardt disease, an inherited cause of vision loss. With one copy, you almost certainly have no symptoms yourself, but it can matter if you're planning a family.

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Strong

A GJB2 35delG variant has been detected.

You have at least one copy of the GJB2 35delG gene change, the most common genetic cause of inherited hearing loss.

One copy means carrier status — usually no hearing impact. Two copies are consistent with congenital sensorineural hearing loss (DFNB1), the most common single genetic cause of hearing loss. If you have not been diagnosed and the result is unexpected, clinical confirmation is appropriate.

With one copy, you're a carrier — your hearing is almost certainly unaffected. With two copies, this is consistent with the most common genetic cause of inherited hearing loss, which is typically present from birth. If you don't already know you have hearing loss and the result is surprising, get a clinical lab to confirm.

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