hu57C9FD Frozen Validation Report
342 PRS models · 1,636 protein predictions · 142 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
Gallbladder and upper digestive sensitivity
near-term focus
The clearest digestive cluster points toward gallstones, gallbladder inflammation, broader bile-duct context, and upper abdominal irritation. This is a genetic tendency, not proof of current disease.
Full explanation
Several inherited signals point in the same digestive direction: gallstones, gallbladder inflammation, broader biliary disease, duodenal irritation, abdominal pain, and hiatus hernia. That convergence makes this one of the more coherent categories in the report.
The evidence does not say that gallbladder disease is present now. It says that, compared with other categories, the inherited pattern gives this area more reason to be taken seriously if real-world signs ever appear.
This category becomes worth discussing if there is recurrent right-upper-abdominal pain, pain after fatty meals, unexplained nausea, fever with abdominal pain, yellowing of the skin or eyes, abnormal liver-related labs, or a family history of gallstones or bile-duct disease.
What to watch forUse recurrent right-upper-abdominal or meal-triggered pain, jaundice, fever, or abnormal liver-related labs as reasons to review gallbladder and bile-duct context with a clinician.
Show technical evidence
Risk-score evidence
- other biliary tract disease: risk percentile 99.2%, coverage 100%, PGS001862.
- cholelithiasis and cholecystitis: risk percentile 98%, coverage 100%, PGS001861.
- cholecystitis: risk percentile 95.7%, coverage 88%, PGS000942.
- cholelithiasis: risk percentile 93.3%, coverage 92%, PGS001174.
- gallstones: risk percentile 83.8%, coverage 91%, PGS001256.
- duodenitis: risk percentile 98.3%, coverage 100%, PGS001852.
Candidate variants
- Variant rs11117432 GG: snpedia_context.
Divergent metabolic and body-composition profile
near-term focus
Metabolic evidence is mixed rather than one-way: diabetes, glucose, visceral-fat, weight-change, and gout signals are elevated, while several insulin-resistance, waist, and weight signals sit lower.
Full explanation
The metabolic pattern is important because it is divergent. Some inherited signals point toward higher glucose-related and visceral-fat tendency, while other signals point toward lower insulin resistance, lower waist or weight tendency, and lower broad body-size context.
Predicted protein-pathway and marker context also touch fat-tissue signaling, sugar handling, lipoprotein biology, insulin-related traits, triglycerides, and waist-to-hip distribution. That makes the category more than a single isolated result.
This category becomes worth reviewing if fasting glucose, long-term glucose, triglycerides, uric acid, waist trend, or weight trend changes in a concerning way, or if symptoms compatible with high or low blood sugar occur. Without those real-world triggers, the practical emphasis is steady habits rather than assuming disease.
What to watch forUse waist trend, glucose-related labs, triglycerides, and uric acid as practical review triggers; prioritize consistent meals, resistance training, and aerobic conditioning.
Show technical evidence
Risk-score evidence
- type 2 diabetes: risk percentile 96.7%, coverage 99%, PGS000125.
- insulin secretion rate: risk percentile 94.1%, coverage 96%, PGS000835.
- two hour glucose during ogtt: risk percentile 81.6%, coverage 95%, PGS000839.
- insulin resistance: risk percentile 18.7%, coverage 98%, PGS000877.
- predicted visceral adipose tissue: risk percentile 87.4%, coverage 97%, PGS000844.
- weight: risk percentile 16.4%, coverage 96%, PGS003898.
Protein pathway context
- SERPINA12: predicted level percentile 93.9%, R2 0.5774; pathway context only.
- SMPDL3A: predicted level percentile 0.8%, R2 0.5001; pathway context only.
- ACP6: predicted level percentile 95.5%, R2 0.6207; pathway context only.
- FUCA1: predicted level percentile 90%, R2 0.822; pathway context only.
- LRPAP1: predicted level percentile 84.7%, R2 0.6658; pathway context only.
Candidate variants
- RMST rs11109072 CC: snpedia_context.
- LOC101929615 rs10195252 TT: snpedia_context.
- SLC10A6 rs10050311 TT: snpedia_context.
- LOC107984063 rs10211524 GG: snpedia_context.
Urinary chemistry, stone, and gout tendency
useful to review
Urine chemistry, kidney-stone, and gout-related signals cluster together. This points to mineral and uric-acid awareness rather than a conclusion that kidney disease is present.
Full explanation
Several inherited signals group around urinary chemistry: microalbumin, urine creatinine, urine potassium, calcium context, urinary stones, and gout. This pattern suggests that mineral handling and uric-acid biology are worth keeping in view.
A kidney-function marker adds context, but the genetic data alone cannot say whether kidney function is high, low, or clinically abnormal today. Real labs and symptoms matter more than the inherited signal by itself.
This category becomes worth reviewing if there is flank pain, a kidney-stone history, gout flares, blood in urine, abnormal urine testing, abnormal kidney-function labs, or high uric acid. Hydration and steady dietary patterns are the practical default unless a clinician gives more specific advice.
What to watch forTreat kidney stones, gout flares, flank pain, blood in urine, or abnormal kidney or uric-acid labs as reasons to review urinary-mineral risk.
Show technical evidence
Risk-score evidence
- microalbumin in urine: risk percentile 97.4%, coverage 100%, PGS001967.
- creatininein urine: risk percentile 94%, coverage 100%, PGS001944.
- urinary calculus: risk percentile 93.3%, coverage 100%, PGS001864.
- potassium in urine: risk percentile 92.3%, coverage 100%, PGS001974.
- calcium: risk percentile 91%, coverage 100%, PGS001893.
- gout: risk percentile 84.7%, coverage 100%, PGS004006.
Candidate variants
- LOC101928338 rs10767873 TT: snpedia_context.
Heart profile: favorable artery signals with rhythm and structure nuance
useful to review
Many artery, heart-attack, blood-pressure, and lipid signals look favorable, but rhythm, valve, heart-structure, venous, and lipid-subtype evidence add nuance.
Full explanation
The cardiovascular pattern is not uniformly high-risk. Inherited signals for chronic artery disease, coronary artery disease, coronary atherosclerosis, heart attack, atrial fibrillation, blood pressure, total cholesterol, and triglycerides are mostly in a favorable direction.
At the same time, there are signals around heart structure, aortic-valve context, electrical timing, lipid subtypes, and response to cholesterol-lowering medication. Predicted protein-pathway and marker context also touch complement, vascular adhesion, lipids, pulse pressure, rhythm, and heart rate.
This category becomes worth reviewing if there is chest discomfort, unexplained breathlessness, palpitations, fainting, high blood pressure, concerning cholesterol results, or a family history of early heart disease. The favorable artery pattern should soften concern, not replace ordinary prevention.
What to watch forKeep standard heart-health prevention in place, and use palpitations, fainting, high blood pressure, lipid changes, or early family heart disease as review triggers.
Show technical evidence
Risk-score evidence
- chronic ischaemic heart disease: risk percentile 0.1%, coverage 88%, PGS000962.
- coronary artery disease: risk percentile 2.1%, coverage 98%, PGS000058.
- coronary atherosclerosis: risk percentile 1.6%, coverage 100%, PGS001839.
- myocardial infarction: risk percentile 3.7%, coverage 87%, PGS001316.
- incident atrial fibrillation: risk percentile 2.6%, coverage 100%, PGS002773.
- total cholesterol: risk percentile 3.5%, coverage 100%, PGS003818.
Protein pathway context
- CFHR4: predicted level percentile 0.9%, R2 0.6355; pathway context only.
- CFHR2: predicted level percentile 80.4%, R2 0.7304; pathway context only.
- ICAM2: predicted level percentile 13.9%, R2 0.5536; pathway context only.
- PZP: predicted level percentile 5.3%, R2 0.5407; pathway context only.
- SERPINA12: predicted level percentile 93.9%, R2 0.5774; pathway context only.
- LRPAP1: predicted level percentile 84.7%, R2 0.6658; pathway context only.
Candidate variants
- AGPAT1,EGFL8,PPT2-EGFL8 rs1061808 GG: snpedia_context.
- Variant rs10402271 TT: snpedia_context.
- Variant rs10503669 CC: snpedia_context.
- C9orf3 rs10821415 CC: snpedia_context.
- LOC105377979 rs1015451 TT: snpedia_context.
Vein and clotting-context signals
useful to review
Venous-clot, thrombophlebitis, and varicose-vein signals are elevated, while a broader clot signal is lower. Treat this as context for high-risk situations, not as a clotting diagnosis.
Full explanation
A distinct venous pattern appears: blood clot or deep-vein-thrombosis context, thrombophlebitis, and varicose veins are elevated. However, a broader blood-clot signal is lower, so the evidence is not a simple one-way clotting message.
This matters most in real-world settings that already change clot risk, such as surgery, immobilization, long travel, injury, or strong family history. Genetics alone does not say that a clotting disorder is present.
This category becomes worth discussing if there is one-sided leg swelling or pain, sudden unexplained shortness of breath, a previous clot, upcoming surgery, prolonged immobilization, or close relatives with unexplained clots.
What to watch forUse surgery, long immobilization, previous clots, strong clot family history, or one-sided leg swelling as reasons to mention the venous signal in care discussions.
Show technical evidence
Risk-score evidence
- phlebitis and thrombophlebitis: risk percentile 87.8%, coverage 86%, PGS000961.
- blood clot or deep vein thrombosis: risk percentile 87.3%, coverage 85%, PGS000931.
- varicose veins: risk percentile 83.9%, coverage 100%, PGS001845.
- blood clot: risk percentile 17.4%, coverage 80%, PGS000930.
Protein pathway context
- PZP: predicted level percentile 5.3%, R2 0.5407; pathway context only.
- PROK1: predicted level percentile 95.3%, R2 0.5481; pathway context only.
Skin and immune-barrier sensitivity
useful to review
Skin inflammation, cellulitis, abscess, and cyst signals are elevated, while several allergy-type signals are lower. Predicted immune-pathway evidence makes this a mixed immune-barrier category.
Full explanation
The skin and immune-barrier evidence points toward dermatitis, superficial cellulitis or abscess, sebaceous cysts, and eczema-dermatitis context. That sits beside lower atopic-eczema, broader atopic-disease, and eosinophil signals.
Predicted immune-pathway proteins point in both activating and dampening directions, so this is not a simple allergy conclusion. It is better read as skin-barrier and immune-response sensitivity with mixed inflammatory tone.
This category becomes worth reviewing if there are recurrent skin infections, repeated abscesses, unusually severe rashes, persistent dermatitis, delayed wound healing, or a clear personal or family pattern of inflammatory skin disease.
What to watch forUse recurrent skin infections, persistent dermatitis, repeated cysts or abscesses, or unusual wound-healing patterns as reasons to review skin-barrier and immune context.
Show technical evidence
Risk-score evidence
- other dermatitis: risk percentile 98.9%, coverage 89%, PGS000927.
- superficial cellulitis and abscess: risk percentile 98.5%, coverage 100%, PGS001869.
- sebaceous cyst: risk percentile 93.6%, coverage 100%, PGS001874.
- eczema dermatitis: risk percentile 82.7%, coverage 87%, PGS000944.
- atopic eczema or atopic disease: risk percentile 1.8%, coverage 98%, PGS003459.
- atopic eczema: risk percentile 5.8%, coverage 99%, PGS003486.
Protein pathway context
- IFNGR2: predicted level percentile 98.6%, R2 0.6902; pathway context only.
- CD300LF: predicted level percentile 97%, R2 0.5333; pathway context only.
- CCL24: predicted level percentile 91.2%, R2 0.7115; pathway context only.
- IL1RL1: predicted level percentile 84.8%, R2 0.5009; pathway context only.
- LILRB2: predicted level percentile 87.2%, R2 0.5829; pathway context only.
- LILRA3: predicted level percentile 84.1%, R2 0.577; pathway context only.
Candidate variants
- LOC105376219 rs10980800 TT: snpedia_context.
- Variant rs10276619 GG: snpedia_context.
Respiratory infection and airway context
useful to review
A very high lower-respiratory-infection signal and a higher obstructive-airway signal sit beside lower lung cancer and pulmonary-fibrosis signals. This is prevention and awareness context.
Full explanation
The respiratory evidence is mixed but meaningful. A very high lower-respiratory-infection signal and a higher obstructive-airway signal are present, while pulmonary-fibrosis and lung-cancer signals are lower.
Predicted immune-pathway proteins and an asthma-context marker add support that this may relate to immune response and airway biology. The evidence does not mean a respiratory diagnosis is present.
This category becomes worth discussing if there are repeated chest infections, persistent cough, wheeze, reduced exercise tolerance, abnormal breathing tests, or smoke exposure. Avoiding smoke and taking respiratory infections seriously are the practical cues.
What to watch forUse recurrent chest infections, persistent cough or wheeze, reduced exercise tolerance, smoke exposure, or abnormal breathing tests as review triggers.
Show technical evidence
Risk-score evidence
- unspecified acute lower respiratory infection: risk percentile 99.9%, coverage 86%, PGS000925.
- chronic obstructive pulmonary disease: risk percentile 80.1%, coverage 84%, PGS001333.
Protein pathway context
- TLR3: predicted level percentile 9.6%, R2 0.8019; pathway context only.
- IFNGR2: predicted level percentile 98.6%, R2 0.6902; pathway context only.
- CD300LF: predicted level percentile 97%, R2 0.5333; pathway context only.
- LILRA6: predicted level percentile 4%, R2 0.5266; pathway context only.
- MICB_MICA: predicted level percentile 8.4%, R2 0.7159; pathway context only.
Candidate variants
- PYHIN1 rs1101999 TT: snpedia_context.
Mood, sleep, attention, and brain-wiring context
background
Several mood, insomnia, attention, and brain-aging signals are elevated, while some worry, trauma, autism, and addiction-related signals sit lower. Brain-region evidence is research context only.
Full explanation
This category groups inherited signals related to depression, help-seeking for nerves or tension, insomnia, attention traits, Alzheimer-related context, and amyloid-related context. The signal is meaningful but should be read as tendency, not diagnosis.
Some related signals point lower, including worry, post-traumatic-stress context, autism-spectrum context, and addiction-risk context. Brain-region rows and predicted nervous-system protein context support a brain-wiring interpretation, but they do not diagnose a condition or predict symptoms by themselves.
This category becomes worth discussing if low mood, sleep disruption, attention impairment, cognitive changes, or anxiety-like symptoms persist or affect daily function, or if there is strong family history. Sleep and training consistency are practical levers even when no symptoms are present.
What to watch forTreat persistent low mood, sleep disruption, attention problems, cognitive changes, or strong family history as reasons to review mental-health and brain-aging context.
Show technical evidence
Risk-score evidence
- lifetime major depressive disorder: risk percentile 96.3%, coverage 98%, PGS000139.
- major depression: risk percentile 80.6%, coverage 98%, PGS000143.
- sleeplessness insomnia: risk percentile 90.1%, coverage 100%, PGS001932.
- attention deficit hyperactivity disorder: risk percentile 83.4%, coverage 100%, PGS003753.
- amyloid beta 42: risk percentile 82.2%, coverage 100%, PGS003762.
- volume of pallidum: risk percentile 91.2%, coverage 88%, PGS001631.
Protein pathway context
- MDGA1: predicted level percentile 87.2%, R2 0.7077; pathway context only.
- ACP6: predicted level percentile 95.5%, R2 0.6207; pathway context only.
Candidate variants
- LRP1B rs10210358 GG: snpedia_context.
- Variant rs10789369 GG: snpedia_context.
- Variant rs10276619 GG: snpedia_context.
Retina, cornea, and myopia awareness
useful to review
Eye-related signals cluster around macular degeneration, corneal dystrophy, and myopia. This supports routine eye-care awareness, not a claim that eye disease is present.
Full explanation
The eye category is driven by strong inherited signals around macular degeneration, corneal dystrophy, and myopia. Additional lower-tail vision and corneal-mechanics context makes the picture more nuanced but does not remove the main eye signal.
Because these are genetic tendencies, they cannot say whether the retina, cornea, or vision is currently abnormal. Eye examination findings are the deciding evidence.
This category becomes worth discussing if there are changing prescriptions, blurred vision, distorted central vision, new difficulty seeing in low light, eye pain, a known corneal issue, or family history of macular or corneal disease.
What to watch forUse routine eye exams, changing vision, distorted central vision, corneal symptoms, or family history as practical triggers for eye-care review.
Show technical evidence
Risk-score evidence
- macular degenerationof retina nos: risk percentile 99.5%, coverage 100%, PGS001834.
- corneal dystrophy: risk percentile 91.5%, coverage 100%, PGS002042.
- myopia diagnosis: risk percentile 87.2%, coverage 100%, PGS001994.
- corneal hysteresis: risk percentile 16.2%, coverage 91%, PGS001381.
- logmar in round: risk percentile 19.5%, coverage 100%, PGS001985.
Prostate and male hormone context
background
Male-specific evidence is mixed: a prostate-marker signal is high, benign-prostate-enlargement context is lower, and prostate, hormone, and reproductive protein-pathway signals point in several directions.
Full explanation
Because the subject metadata is male, prostate and reproductive-hormone context is relevant. The profile includes a higher prostate-marker signal and prostate-cancer marker context, but a lower benign-prostate-enlargement signal.
Predicted prostate, hormone, and male reproductive protein-pathway signals are mixed. This does not mean cancer, fertility trouble, or hormone imbalance is present; it means this body system has enough evidence to keep in view.
This category becomes worth reviewing if urinary flow changes, nighttime urination, blood in urine or semen, an abnormal prostate-marker result, fertility concerns, hormone-related symptoms, or a family history of prostate cancer are present.
What to watch forUse urinary symptoms, abnormal prostate-marker results, fertility or hormone concerns, or family history of prostate cancer as reasons to discuss prostate and hormone context.
Show technical evidence
Risk-score evidence
- prostate specific antigenlevels: risk percentile 91.1%, coverage 84%, PGS003378.
- hyperplasia of prostate: risk percentile 10%, coverage 80%, PGS001338.
- estradiol 212 pmol l: risk percentile 85.3%, coverage 88%, PGS001182.
- sex hormone binding globulin: risk percentile 9.3%, coverage 100%, PGS001977.
Protein pathway context
- MSMB: predicted level percentile 14.4%, R2 0.5861; pathway context only.
- PSCA: predicted level percentile 10.6%, R2 0.7849; pathway context only.
- FSHB: predicted level percentile 92.2%, R2 0.6068; pathway context only.
- CRISP2: predicted level percentile 91%, R2 0.5552; pathway context only.
- TEX101: predicted level percentile 14%, R2 0.5681; pathway context only.
- INSL3: predicted level percentile 17.1%, R2 0.7312; pathway context only.
Candidate variants
- Variant rs10505483 CC: snpedia_context.
- C9orf3 rs10821415 CC: snpedia_context.
- SLC10A6 rs10050311 TT: snpedia_context.
Cancer-related screening context
background
Cancer-related evidence is diverse: some blood, brain, skin, and prostate-context signals are elevated, while lung and colon signals are lower. This is background for standard screening and family-history review.
Full explanation
The cancer-related evidence does not form one single disease story. Elevated signals include lymphocytic leukemia, glioma, melanoma, and prostate context, while lung-cancer and benign-colon-neoplasm signals are lower.
Predicted protein-pathway and marker context adds cancer-background evidence, but these findings are not diagnostic and should not be used to assume a cancer is present. The strongest practical use is to keep standard screening and family history in view.
This category becomes worth discussing if there is strong family history, new or changing moles, unexplained lumps, persistent night sweats, unexplained weight loss, unusual bleeding, or persistent new neurological symptoms.
What to watch forFollow standard age-appropriate screening, and use strong family history or persistent unexplained changes as reasons to discuss whether screening should be individualized.
Show technical evidence
Risk-score evidence
- lymphocytic leukemia: risk percentile 92%, coverage 99%, PGS000077.
- skin melanoma: risk percentile 87.7%, coverage 98%, PGS003745.
- benign neoplasm of colon: risk percentile 18.6%, coverage 100%, PGS001811.
Protein pathway context
- PSCA: predicted level percentile 10.6%, R2 0.7849; pathway context only.
- MSMB: predicted level percentile 14.4%, R2 0.5861; pathway context only.
- CEACAM21: predicted level percentile 11.9%, R2 0.6663; pathway context only.
- TDGF1: predicted level percentile 17.5%, R2 0.7616; pathway context only.
- FGFR4: predicted level percentile 19.9%, R2 0.6546; pathway context only.
Candidate variants
- Variant rs10505483 CC: snpedia_context.
- Variant rs10484561 TT: snpedia_context.
- ZHX2 rs10108684 GG: snpedia_context.
- LRP1B rs10210358 GG: snpedia_context.
Joints, tendons, and connective-tissue background
background
Joint, hand-fascia, bone-ultrasound, and height-related signals create a modest connective-tissue and training-load context.
Full explanation
The musculoskeletal evidence is lower priority than the digestive or metabolic clusters, but it is still meaningful. It includes other arthropathy context, hand-fascia contracture context, lower bone-ultrasound context, and height-related background.
Predicted actin and pain-pathway protein context fits with tissue mechanics and response to loading. The evidence does not diagnose arthritis, tendon disease, or low bone density.
This category becomes worth reviewing if persistent joint swelling, prolonged morning stiffness, hand contracture, recurrent tendon pain, training-limiting pain, low-trauma fracture, or a low bone-density result appears.
What to watch forUse persistent joint swelling, hand contracture, tendon pain, low-trauma fracture, or training-limiting symptoms as reasons to review musculoskeletal context.
Show technical evidence
Risk-score evidence
- other arthropathies: risk percentile 82.6%, coverage 100%, PGS001877.
- contracture of palmar fascia dupuytren s disease: risk percentile 81.7%, coverage 100%, PGS001880.
- heel broadband ultrasound attenuation direct entry: risk percentile 14.5%, coverage 100%, PGS001956.
- height: risk percentile 80.8%, coverage 99%, PGS000758.
Protein pathway context
- AFAP1: predicted level percentile 0.5%, R2 0.5176; pathway context only.
- PROK1: predicted level percentile 95.3%, R2 0.5481; pathway context only.
Candidate variants
- Variant rs11177669 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.
CYP3A5
INTERMEDIATE METABOLIZER
*1/*3
Affected drugs: Tacrolimus, Sirolimus
This report comes from consumer microarray data with statistical imputation. Confirm clinically before changing prescriptions.