huF7A4DE Frozen Validation Report
343 PRS models · 1,636 protein predictions · 140 candidate variants. This static snapshot is generated from the public report JSON artifact.
Overview-first report: suggested next steps are shown before technical PRS and protein tables. Genetic evidence is not diagnostic by itself.
Clinical Variant Status
✓No confirmed pathogenic
Eye pressure and optic-nerve context
near-term focus
Eye-pressure and glaucoma-related signals are among the clearest findings, so regular eye-care context matters even without assuming any current eye problem.
Full explanation
This category appears because several inherited score signals point in the same direction for eye pressure and glaucoma-related traits. A variant with eye-structure and glaucoma context adds support, and a separate myopia-related signal adds eye-shape background.
This does not mean you have glaucoma or raised eye pressure. It means the genetic evidence makes eye-pressure and optic-nerve context more relevant than average when thinking about preventive eye care.
This becomes worth discussing or reviewing if there is a family history of glaucoma, past high eye pressure, frequent changes in vision prescription, new halos, eye pain, narrowed side vision, or if an optometrist has ever mentioned optic-nerve or pressure concerns.
What to watch forKeep routine eye exams current, and mention this genetic tendency if there is family history, high eye pressure, optic-nerve concern, or unexplained vision change.
Show technical evidence
Risk-score evidence
- intraocular pressure: risk percentile 98.8%, coverage 93%, PGS000879.
- glaucoma: risk percentile 97.4%, coverage 100%, PGS001836.
- primary open angle glaucoma: risk percentile 87.1%, coverage 87%, PGS002741.
- spherical power: risk percentile 12.2%, coverage 92%, PGS001100.
- corneal hysteresis: risk percentile 13.2%, coverage 90%, PGS001381.
Candidate variants
- CDKN2B rs1063192 AG: confirmation_required.
- Variant rs10089517 CC: snpedia_context.
Digestive sensitivity and gut inflammation
near-term focus
Digestive sensitivity, reflux-like, diverticular, mouth-ulcer, and inflammatory bowel signals cluster strongly, with immune pathway support.
Full explanation
This is one of the strongest body-system clusters. The evidence includes very high digestive-sensitivity context, several bowel and reflux-related signals, and inflammatory bowel and Crohn-related signals.
The protein and variant evidence points toward immune regulation rather than digestion alone. That makes the pattern more like a gut-immune sensitivity theme than a simple food-preference finding.
There are also softer signals in the opposite direction, so this should not be read as a prediction that bowel disease is present. Genetics can make a system more worth paying attention to without proving current inflammation.
This becomes worth discussing or reviewing if there are persistent bowel changes, blood in stool, unexplained weight change, recurring mouth ulcers, severe reflux, ongoing abdominal pain, or a close family history of inflammatory bowel disease.
What to watch forUse gut symptoms and family history as the trigger: persistent reflux, bowel changes, mouth ulcers, or inflammatory bowel history would make this worth raising with a clinician.
Show technical evidence
Risk-score evidence
- sensitive stomach: risk percentile 99.9%, coverage 100%, PGS002004.
- hiatus hernia: risk percentile 94%, coverage 89%, PGS000939.
- diverticular disease of intestine: risk percentile 93%, coverage 91%, PGS000997.
- inflammatory bowel disease: risk percentile 91%, coverage 100%, PGS004013.
- crohn s disease: risk percentile 89.3%, coverage 83%, PGS001331.
- mouth ulcers: risk percentile 83.9%, coverage 90%, PGS000947.
Protein pathway context
- IL1RAP: predicted level percentile 99.4%, R2 0.706; pathway context only.
- TLR3: predicted level percentile 96.2%, R2 0.8019; pathway context only.
- LILRB5: predicted level percentile 87.7%, R2 0.7926; pathway context only.
Candidate variants
- IL23R rs10889677 CC: snpedia_context.
- Variant rs10995271 GG: snpedia_context.
- IL10 rs1800896 CT: confirmation_required.
Endometriosis and pelvic pain context
useful to review
The endometriosis signal is very high, so pelvic-pain, menstrual, and fertility context is worth keeping connected to real symptoms rather than ignored.
Full explanation
The inherited signal for endometriosis is very high. Because the subject metadata is female, this is a meaningful reproductive-health category rather than a generic background trait.
The supporting evidence is not enough to say endometriosis is present. It is best treated as a tendency that could matter if symptoms or fertility context ever line up.
Inflammatory and growth-signaling protein context fits the broader theme but is not specific enough to diagnose anything by itself.
This becomes worth discussing or reviewing if there are severe period pains, pelvic pain outside periods, pain with sex, bowel or bladder pain that cycles with periods, difficulty conceiving, or a family history of endometriosis.
What to watch forIf pelvic pain, severe menstrual symptoms, or fertility concerns are present, this genetic context is worth mentioning during gynecology review.
Show technical evidence
Risk-score evidence
- endometriosis: risk percentile 99.8%, coverage 100%, PGS001866.
- igf 1: risk percentile 91.1%, coverage 100%, PGS001960.
Protein pathway context
- IL1RAP: predicted level percentile 99.4%, R2 0.706; pathway context only.
- DKKL1: predicted level percentile 89.6%, R2 0.8321; pathway context only.
Divergent metabolic pattern
useful to review
Diabetes and body-size signals are higher, but glucose, insulin-resistance, triglyceride, LDL-related, and coronary signals are mostly favorable.
Full explanation
The metabolic picture is not one-directional. Several diabetes and body-size signals are elevated, including type 2 diabetes and body-mass context.
At the same time, several markers that often travel with metabolic risk look favorable in the inherited evidence: glucose, insulin resistance, LDL-related cholesterol, triglycerides, blood pressure, and coronary disease signals are mostly low or protective.
That makes this a divergence category. The practical message is not panic about diabetes, but do not assume favorable cholesterol genetics cancels out body-composition or glucose-regulation tendency.
This becomes worth discussing or reviewing if routine labs show rising glucose, high long-term blood sugar, central weight gain, fatty-liver concerns, pregnancy-related glucose issues, strong family history of diabetes, or a major change in activity or weight.
What to watch forUse routine metabolic labs and body-composition changes as the trigger; prioritize steady activity, high-fiber meals, and strength training if glucose or waist changes move upward.
Show technical evidence
Risk-score evidence
- non insulin dependent diabetes: risk percentile 95.4%, coverage 90%, PGS001294.
- diabetes: risk percentile 89.6%, coverage 90%, PGS001327.
- type 2 diabetes: risk percentile 87%, coverage 99%, PGS000125.
- body mass index: risk percentile 83.5%, coverage 97%, PGS000830.
- glucose: risk percentile 16.4%, coverage 100%, PGS001952.
- insulin resistance: risk percentile 11%, coverage 98%, PGS000877.
Protein pathway context
- SGSH: predicted level percentile 18.9%, R2 0.627; pathway context only.
- DKKL1: predicted level percentile 89.6%, R2 0.8321; pathway context only.
Candidate variants
- Variant rs10089517 CC: snpedia_context.
- Variant rs10503669 CC: snpedia_context.
- Variant rs10402271 TT: snpedia_context.
Clotting and swelling-response context
useful to review
Common clotting signals look mostly favorable, but a confirmation-required PLG finding makes clotting, swelling, and surgery context worth knowing.
Full explanation
The common inherited score evidence for blood clots and deep-vein thrombosis is mostly favorable. That is reassuring background for the common-risk side of this category.
The nuance is a PLG finding with confirmation-required context for plasminogen-related conditions, hereditary swelling, and thrombosis. This should not be treated as a diagnosis, especially because the evidence says confirmation is required.
Platelet-size and platelet-distribution signals are also elevated, which adds blood-cell texture but does not by itself indicate a clotting disorder.
This becomes worth discussing or reviewing if there has been unexplained swelling, a personal or close family history of blood clots, unusual wound-healing membranes, planned major surgery, pregnancy planning, estrogen-containing medication decisions, or unexplained clotting-lab abnormalities.
What to watch forDo not treat this as a diagnosis, but consider confirmation or clinician review if clotting, unexplained swelling, surgery, pregnancy, estrogen exposure, or family history makes it relevant.
Show technical evidence
Risk-score evidence
- mean plateletvolume: risk percentile 96.8%, coverage 96%, PGS003934.
- platelet distribution width: risk percentile 87.9%, coverage 100%, PGS001972.
- blood clot: risk percentile 3.5%, coverage 80%, PGS000930.
- deep vein thrombosis: risk percentile 5.5%, coverage 88%, PGS001266.
- blood clot or deep vein thrombosis: risk percentile 7.3%, coverage 84%, PGS000931.
- previously blood clot in the legor lung: risk percentile 8.5%, coverage 86%, PGS001278.
Candidate variants
- PLG rs73015965 GA: confirmation_required.
Immune balance and allergy contrast
useful to review
The immune pattern is mixed: gut and inflammatory signals are stronger, while several allergy, asthma, eczema, and broad white-cell signals are lower.
Full explanation
The immune evidence does not point to a simple high-immune or low-immune story. Lymphocyte, monocyte, basophil, platelet-size, lupus, and gut-inflammatory signals are elevated.
At the same time, several allergy and airway-related signals are lower, including asthma and eczema context, and broad white-cell and neutrophil signals are also low. Protein evidence points to inflammatory, antiviral, complement, and macrophage-checkpoint pathways.
This makes the category most useful as immune-pattern context, especially where gut symptoms, autoimmune family history, or unusual inflammatory symptoms exist.
This becomes worth discussing or reviewing if there are recurrent inflammatory flares, autoimmune disease in close relatives, unexplained rashes or joint swelling, unusual infection patterns, or persistent blood-count abnormalities on routine testing.
What to watch forUse real inflammatory symptoms, autoimmune family history, or unusual blood-count results as the reason to bring this immune pattern into a clinical conversation.
Show technical evidence
Risk-score evidence
- lymphocyte percentage: risk percentile 98.9%, coverage 96%, PGS003941.
- monocyte percentage: risk percentile 89.7%, coverage 100%, PGS001991.
- basophil percentage: risk percentile 87.9%, coverage 96%, PGS003945.
- mean plateletvolume: risk percentile 96.8%, coverage 96%, PGS003934.
- white blood cellcount: risk percentile 1.8%, coverage 96%, PGS003924.
- neutrophil percentage: risk percentile 3.9%, coverage 96%, PGS003943.
Protein pathway context
- IL1RAP: predicted level percentile 99.4%, R2 0.706; pathway context only.
- CFHR2: predicted level percentile 0.9%, R2 0.7304; pathway context only.
- BST1: predicted level percentile 1.9%, R2 0.7006; pathway context only.
- TLR3: predicted level percentile 96.2%, R2 0.8019; pathway context only.
- LILRB5: predicted level percentile 87.7%, R2 0.7926; pathway context only.
- SIRPA: predicted level percentile 14.8%, R2 0.8273; pathway context only.
Candidate variants
- IL10 rs1800896 CT: confirmation_required.
- IL23R rs10889677 CC: snpedia_context.
- Variant rs10995271 GG: snpedia_context.
- Variant rs10484561 TT: snpedia_context.
- ZHX2 rs10108684 GG: snpedia_context.
- PYHIN1 rs1101999 TT: snpedia_context.
Kidney stone and hydration context
useful to review
A kidney-stone signal is elevated, while urea and gout signals are lower; hydration and routine kidney-lab context are the practical angle.
Full explanation
The kidney-related evidence is also mixed. A urinary-stone signal is high, and cystatin-related context is elevated.
Other kidney-adjacent signals are lower, including urea and gout-related evidence. Variants add kidney-function and blood-urea context, but they do not say a kidney problem is present.
The practical interpretation is to treat hydration, stone history, and routine kidney labs as the real-world anchors.
This becomes worth discussing or reviewing if there is flank pain, blood in urine, known kidney stones, recurrent urinary issues, abnormal kidney blood tests, high blood pressure, or a close family history of stones.
What to watch forKeep hydration and routine kidney-lab context in mind, and raise the genetic context if kidney stones, flank pain, urine changes, or abnormal kidney markers occur.
Show technical evidence
Risk-score evidence
- urinary calculus: risk percentile 90.1%, coverage 100%, PGS001864.
- cystatin c mg l: risk percentile 80.2%, coverage 93%, PGS000680.
- urea: risk percentile 2.5%, coverage 100%, PGS001980.
- urea mmol l: risk percentile 3.7%, coverage 92%, PGS000701.
- gout: risk percentile 12%, coverage 100%, PGS004006.
Candidate variants
- LOC101928338 rs10767873 TT: snpedia_context.
- LOC107986166 rs10937329 TT: snpedia_context.
Heart and cholesterol pattern
useful to review
Heart-risk genetics look mostly favorable for cholesterol, coronary disease, blood pressure, and clots, with structural-heart and statin-handling nuance.
Full explanation
The cardiovascular picture is mostly favorable. LDL-related, total cholesterol, coronary disease, myocardial infarction, blood-pressure, and clotting signals are generally low or protective.
The main nuance is that a left-ventricular-mass signal is high, and pulse-wave timing adds vascular-structure context. This does not mean a heart condition is present, but it means the heart story is not only about cholesterol.
Medication context also matters if cholesterol treatment is ever considered: the evidence includes both a strong statin-response signal and a statin-handling finding that may affect tolerability or medication choice.
This becomes worth discussing or reviewing if there is high blood pressure, abnormal cholesterol labs, chest pain, palpitations, fainting, shortness of breath with exertion, a heart murmur, strong family history, or if a statin is being considered.
What to watch forTreat the favorable cholesterol genetics as useful context, but still use real blood pressure, cholesterol labs, symptoms, family history, and statin decisions to guide care.
Show technical evidence
Risk-score evidence
- coronary artery disease: risk percentile 2.5%, coverage 98%, PGS000058.
- myocardial infarction: risk percentile 3.1%, coverage 87%, PGS001316.
- diastolic blood pressure automated reading: risk percentile 1%, coverage 100%, PGS001900.
- systolic blood pressure automated reading: risk percentile 5.1%, coverage 100%, PGS002009.
- ldl direct: risk percentile 0.3%, coverage 100%, PGS001933.
- cholesterol: risk percentile 0.7%, coverage 100%, PGS001895.
Protein pathway context
- CFHR2: predicted level percentile 0.9%, R2 0.7304; pathway context only.
- KLK1: predicted level percentile 17.1%, R2 0.6165; pathway context only.
Candidate variants
- Variant rs10402271 TT: snpedia_context.
- Variant rs10503669 CC: snpedia_context.
- CDKN2B rs1063192 AG: confirmation_required.
Medication-response context
- SLCO1B1: Decreased Function, *1/*5; affected medicines include Simvastatin (myopathy risk), Atorvastatin, Rosuvastatin, Pravastatin.
Liver and bile-processing context
background
Liver-enzyme balance and alcohol-context signals are mixed, while gallstone, bilirubin, and biliary signals are mostly favorable.
Full explanation
This category appears because AST-related signals are higher, including the AST-to-ALT balance, while ALT and bilirubin-related signals are lower.
Gallstone, cholecystitis, and biliary-tract signals are mostly favorable. Alcohol-drinker status is high, but the signal for increased alcohol consumption over time is low, so this is best interpreted as moderation context rather than a behavior claim.
Variants add bilirubin and kidney-liver chemistry context, but the genetic evidence cannot say anything about current liver enzymes.
This becomes worth discussing or reviewing if routine liver labs are abnormal, alcohol intake changes, there is right-upper-abdominal pain, jaundice, unexplained itching, medication-related liver concerns, or a history of fatty liver or gallbladder disease.
What to watch forUse actual liver labs, alcohol pattern, medication exposures, and gallbladder symptoms as the trigger; moderation is the practical default.
Show technical evidence
Risk-score evidence
- ast to alt ratio: risk percentile 94.5%, coverage 93%, PGS000674.
- aspartate aminotransferase u l: risk percentile 83%, coverage 92%, PGS000673.
- alanine aminotransferase: risk percentile 8.4%, coverage 100%, PGS001940.
- total bilirubin: risk percentile 10.7%, coverage 100%, PGS001942.
- cholelithiasis: risk percentile 3.5%, coverage 91%, PGS001174.
- gallstones: risk percentile 8.6%, coverage 91%, PGS001256.
Candidate variants
- UGT1A6,UGT1A7,UGT1A8,UGT1A9,UGT1A10 rs1105879 AA: snpedia_context.
- LOC101928338 rs10767873 TT: snpedia_context.
Thyroid and growth-signal context
background
A thyroid-nodule-related signal is high, while hypothyroid and overactive-thyroid signals are low; this is mainly review context if symptoms or labs appear.
Full explanation
The main thyroid finding is a high signal for nontoxic multinodular goiter, which is thyroid-nodule context. Signals for hypothyroidism and overactive thyroid are low.
This makes the thyroid pattern divergent: structural thyroid context appears stronger than thyroid-function disease context. IGF-1 and Wnt-pathway protein evidence adds a broader growth-signaling theme.
This does not mean there is a thyroid nodule or abnormal thyroid function now. It simply makes thyroid findings more relevant if they ever appear on exam, imaging, or blood work.
This becomes worth discussing or reviewing if there is neck swelling, trouble swallowing, voice change, unexplained weight or temperature intolerance, palpitations, abnormal thyroid labs, thyroid ultrasound findings, or a family history of thyroid nodules.
What to watch forIf thyroid symptoms, neck changes, abnormal thyroid labs, or thyroid imaging findings occur, mention the nodule-leaning genetic context.
Show technical evidence
Risk-score evidence
- nontoxic multinodular goiter: risk percentile 97.9%, coverage 100%, PGS001814.
- hypothyroidism: risk percentile 10.3%, coverage 100%, PGS001816.
- hypothyroidism myxoedema: risk percentile 10.6%, coverage 92%, PGS000965.
- thyrotoxicosis with or without goiter: risk percentile 17%, coverage 100%, PGS001815.
- igf 1: risk percentile 91.1%, coverage 100%, PGS001960.
Protein pathway context
- DKKL1: predicted level percentile 89.6%, R2 0.8321; pathway context only.
Candidate variants
- SLCO1C1 rs10770705 CC: snpedia_context.
Brain wiring and stress-response background
background
Brain-region findings are research context only, with additional synapse-protein and mixed mood, stress, sleep, and neurodevelopmental signals.
Full explanation
This category is intentionally framed as background. Several brain-region score rows are research-context findings and should not be treated as medical risk or diagnosis.
A synapse-related protein signal is high, and there are mixed inherited signals touching autism-spectrum, post-traumatic stress, depression, loneliness, sleep, and Alzheimer-related context. Some depression and Alzheimer-related signals are lower, so the direction is not simple.
The useful interpretation is that sleep, stress load, learning environment, and mental-health context may matter more than a single label. The evidence is interesting but not diagnostic.
This becomes worth discussing or reviewing if there are persistent mood symptoms, trauma-related symptoms, major sleep disruption, cognitive change, functional impairment, strong family history, or if training stress is affecting recovery and motivation.
What to watch forTreat this as background; use real sleep, mood, stress, cognition, and recovery changes as the reason to act or seek support.
Show technical evidence
Risk-score evidence
- volume of putamen: risk percentile 98.1%, coverage 88%, PGS001636.
- volume of caudate: risk percentile 97.7%, coverage 89%, PGS001543.
- volume of brain grey white matter: risk percentile 86.5%, coverage 91%, PGS001541.
- total volume of white matter hyperintensities: risk percentile 7.2%, coverage 87%, PGS001534.
- volume of grey matter in superior frontal gyrus: risk percentile 15.6%, coverage 88%, PGS001597.
- volume of brain stem 4th ventricle: risk percentile 83.5%, coverage 88%, PGS001539.
Protein pathway context
- MDGA1: predicted level percentile 99.8%, R2 0.7077; pathway context only.
- ENPP5: predicted level percentile 87.5%, R2 0.6477; pathway context only.
Candidate variants
- CACNA1C rs1006737 GG: snpedia_context.
- Variant rs10789369 GG: snpedia_context.
- LRP1B rs10210358 GG: snpedia_context.
Foot structure and training-load mechanics
background
Foot-shape, height, sitting-height, and body-impedance signals suggest joint-aware training and footwear choices are practical.
Full explanation
The clearest musculoskeletal signal is hallux valgus context, which points to foot structure. Height, sitting-height, and arm-impedance signals add body-proportion and body-composition context.
The same evidence set includes lower signals for radius fracture and internal knee derangement, so this is not a broad injury-risk story. It is more about load distribution, footwear, and gradual training progression.
For training, this supports a stable base of strength work, aerobic conditioning, and foot/ankle capacity rather than sudden jumps in running volume or high-impact work.
This becomes worth discussing or reviewing if there is bunion pain, recurring foot or ankle discomfort, shoe-fit problems, altered gait, new running volume, or performance plateaus linked to lower-limb discomfort.
What to watch forChoose footwear and training progressions that respect foot comfort; increase running, jumping, and loaded lower-body work gradually.
Show technical evidence
Risk-score evidence
- hallux valgus: risk percentile 96%, coverage 100%, PGS001881.
- height: risk percentile 6.099999999999994%, coverage 99%, PGS000758.
- sitting height: risk percentile 20%, coverage 96%, PGS003896.
- impedance of arm: risk percentile 80.1%, coverage 96%, PGS003908.
- radius fracture: risk percentile 7%, coverage 87%, PGS001258.
- internal derangement of knee: risk percentile 16.6%, coverage 82%, PGS001027.
Candidate variants
- Variant rs10748128 TT: snpedia_context.
- SLCO1C1 rs10770705 CC: snpedia_context.
Cancer screening context
background
Broad cancer-related score signals are mostly favorable, while variant and protein findings add background that should be tied to routine screening and family history.
Full explanation
The broad inherited score evidence is mostly reassuring: several overall cancer, breast, ovarian, and colon-neoplasm signals are lower or favorable. One benign digestive neoplasm signal is higher, which overlaps with the broader digestive category.
Variant and protein evidence adds background across ovarian, breast, lymphoma, melanoma, kidney, salivary, and cell-growth pathways, but these are not enough to say there is a cancer syndrome or current cancer risk that overrides standard care.
The most useful interpretation is to keep routine age-appropriate screening and family-history review aligned, rather than creating special screening from genetics alone.
This becomes worth discussing or reviewing if there is a strong family history of early cancer, multiple related cancers in one side of the family, unusual pathology findings, breast or pelvic symptoms, persistent unexplained symptoms, or a clinician is already considering genetic confirmation.
What to watch forStay aligned with routine screening, and use strong family history or unusual clinical findings as the reason to review the variant background.
Show technical evidence
Risk-score evidence
- number of self reported cancers: risk percentile 3%, coverage 88%, PGS001005.
- benign neoplasm of colon: risk percentile 16.6%, coverage 100%, PGS001811.
- benign neoplasm of other parts of digestive system: risk percentile 91%, coverage 100%, PGS001812.
Protein pathway context
- CEACAM21: predicted level percentile 91%, R2 0.6663; pathway context only.
- KLK12: predicted level percentile 6.5%, R2 0.7889; pathway context only.
- HDGF: predicted level percentile 9.3%, R2 0.6401; pathway context only.
- DKKL1: predicted level percentile 89.6%, R2 0.8321; pathway context only.
Candidate variants
- LINC00824 rs10088218 GG: snpedia_context.
- Variant rs10484561 TT: snpedia_context.
- CDKN2B rs1063192 AG: confirmation_required.
- ZHX2 rs10108684 GG: snpedia_context.
- LRP1B rs10210358 GG: snpedia_context.
- MAML2 rs11021504 TT: snpedia_context.
Medication Safety
Genes below have pharmacogenomic phenotypes that may affect drug choice or dose review. Use this as a clinical discussion aid, not as a standalone prescribing instruction.
CYP2C9
POOR METABOLIZER
*2/*3
Affected drugs: Warfarin, Phenytoin, Celecoxib, Flurbiprofen, Losartan, Simvastatin
CYP3A5
POOR METABOLIZER
*3/*3
Affected drugs: Tacrolimus, Sirolimus
SLCO1B1
DECREASED FUNCTION
*1/*5
Affected drugs: Simvastatin (myopathy risk), Atorvastatin, Rosuvastatin, Pravastatin
This report comes from consumer microarray data with statistical imputation. Confirm clinically before changing prescriptions.