huDBDF82 Frozen Validation Report
342 PRS models · 1,636 protein predictions · 138 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
Blood clotting and vein circulation
near-term focus
The strongest cluster points to inherited tendency around vein clotting, blood-cell traits, and clot-related circulation. This does not mean a clot will occur, but it is worth making clinicians aware of before high-risk situations.
Full explanation
Several of the strongest inherited signals in this report point in the same direction: vein clotting, vein inflammation, deep vein clotting, pulmonary clotting, platelet count, and broader blood-cell biology.
That kind of convergence matters because clotting risk is usually situational. Genetics may raise the background tendency, while real-world triggers such as surgery, long immobility, pregnancy or postpartum state, estrogen-containing medication, smoking, dehydration, major injury, or active inflammatory illness can change the practical level of concern.
The protein and variant context also points toward immune-complement and blood-cell pathways, which fits the broader clotting and inflammation picture. This is still not a diagnosis and should not be treated as proof of a clotting disorder by itself.
This is worth discussing urgently if there is one-sided leg swelling, new calf pain, unexplained shortness of breath, chest pain, coughing blood, or fainting. It is also worth proactively reviewing before surgery, long-haul travel, immobilization, pregnancy-related care, or any medication decision that could affect clotting tendency.
What to watch forMake this clotting tendency visible before surgery, long travel, immobilization, pregnancy-related care, or hormone-medication decisions; seek urgent care for sudden one-sided leg swelling, chest pain, or unexplained breathlessness.
Show technical evidence
Risk-score evidence
- blood clot or deep vein thrombosis: risk percentile 99.9%, coverage 85%, PGS000931.
- phlebitis and thrombophlebitis: risk percentile 99.9%, coverage 86%, PGS000961.
- deep vein thrombosis: risk percentile 99.9%, coverage 89%, PGS001266.
- platelet count: risk percentile 95.4%, coverage 96%, PGS003932.
- pulmonary embolism: risk percentile 80.6%, coverage 100%, PGS003861.
Protein pathway context
- CFHR2: predicted level percentile 88.3%, R2 0.7304; pathway context only.
- MST1: predicted level percentile 14.7%, R2 0.6781; pathway context only.
- FCGR2A: predicted level percentile 4.2%, R2 0.5811; pathway context only.
Candidate variants
- RCL1 rs10758658 GG: snpedia_context.
- LOC105376219 rs10980800 TT: snpedia_context.
- ATP2B4 rs10900585 TT: snpedia_context.
Breast and selected female cancer awareness
useful to review
Breast cancer signals are prominent, including subtype-related background. This should guide awareness and shared decision-making, not be read as a prediction.
Full explanation
The breast cancer evidence is strong enough to deserve a clear card. Several inherited signals point toward breast cancer awareness, including subtype-related signals that can matter for how clinicians think about family history and screening discussions.
There is also a female cancer variant-context signal in the evidence. That does not diagnose ovarian or breast cancer risk by itself, but it adds enough background to keep this in the useful-review category rather than burying it.
The practical interpretation is simple: genetics can help decide when a screening or family-history discussion should be more deliberate. It does not replace standard age-based screening, and it cannot say whether cancer is present.
This is worth reviewing with a clinician if there is a close family history of breast, ovarian, pancreatic, or aggressive prostate cancer, unusually early cancers in relatives, prior abnormal breast imaging, breast symptoms, or uncertainty about the right screening schedule.
What to watch forUse this as a prompt for a breast-screening and family-history review, especially if close relatives had breast, ovarian, pancreatic, or early-onset cancers.
Show technical evidence
Risk-score evidence
- endometrial cancer: risk percentile 14.4%, coverage 96%, PGS002737.
Protein pathway context
- KLK12: predicted level percentile 94.3%, R2 0.7889; pathway context only.
Candidate variants
- LINC00824 rs10088218 GG: snpedia_context.
Gut inflammation, diverticular tendency, and colorectal context
useful to review
Gut-related evidence is mixed but meaningful: inflammatory bowel and diverticular signals are elevated, while some colon-polyp and diverticulosis signals are favorable.
Full explanation
The gut category is not one simple direction. Inflammatory bowel and diverticular-disease signals are prominent, while some related digestive and colon-polyp signals lean favorable. That makes this a mixed category rather than a straightforward risk label.
The protein evidence points toward bacterial-defense, inflammatory, and immune-response pathways. Variant context adds colorectal cancer background, which is useful for awareness but not enough to imply disease.
The best practical response is steady gut support rather than extreme restriction: consistent fiber if tolerated, hydration, regular movement, and attention to persistent changes in bowel pattern. Sudden dietary overhauls are not implied by the genetics.
This is worth discussing if there is persistent abdominal pain, blood in stool, unexplained weight loss, ongoing diarrhea or constipation, recurrent diverticulitis, iron-deficiency anemia, or a family history of inflammatory bowel disease or colorectal cancer.
What to watch forKeep a fiber-forward, steady routine if tolerated, and review this category if bowel symptoms persist, bleeding occurs, or family history raises colorectal or inflammatory bowel concern.
Show technical evidence
Risk-score evidence
- crohn s disease: risk percentile 98%, coverage 82%, PGS001331.
- diverticular disease diverticulitis: risk percentile 99.4%, coverage 88%, PGS000996.
- hemorrhoid: risk percentile 89.3%, coverage 87%, PGS001024.
- diverticulosis: risk percentile 18%, coverage 100%, PGS001857.
- benign neoplasm of other parts of digestive system: risk percentile 1%, coverage 100%, PGS001812.
- benign neoplasm of colon: risk percentile 6.4%, coverage 100%, PGS001811.
Protein pathway context
- PGLYRP2: predicted level percentile 4.9%, R2 0.5671; pathway context only.
- IL1RAP: predicted level percentile 94.1%, R2 0.706; pathway context only.
- IFNGR2: predicted level percentile 93.4%, R2 0.6902; pathway context only.
- MST1: predicted level percentile 14.7%, R2 0.6781; pathway context only.
- MEP1B: predicted level percentile 95.7%, R2 0.6752; pathway context only.
Candidate variants
- Intergenic rs10795668 GG: snpedia_context.
- Variant rs11255841 TT: snpedia_context.
- IL23R rs11209026 GG: snpedia_context.
Body composition with favorable sugar and lipid balance
useful to review
Body-size tendency is elevated, but inherited signals for blood sugar, blood fats, blood pressure, and coronary disease lean favorable. This is a divergence, not a simple metabolic-risk story.
Full explanation
This is one of the most nuanced parts of the report. The inherited body-size signal is higher, but the surrounding metabolic signals are not moving in the same adverse direction.
Blood sugar, diabetes-related, blood-fat, blood-pressure, and coronary disease signals lean favorable. That suggests body composition may be the place to focus habits, while the classic metabolic-risk background looks more reassuring genetically.
The protein and variant context points toward metabolic enzymes, adipose and hormone-related pathways, body structure, and fatty-acid or iron-related background. These signals are best used to shape lifestyle priorities, not to infer current lab results.
This category is worth reviewing if weight, waist size, blood sugar, blood pressure, cholesterol, energy level, menstrual pattern, or exercise recovery changes in real life. Actual measurements should always outrank genetics.
What to watch forPrioritize strength training, daily movement, protein- and fiber-rich meals, and periodic real-world metabolic measurements if weight, waist, energy, or labs shift.
Show technical evidence
Risk-score evidence
- body mass index: risk percentile 87.5%, coverage 97%, PGS000830.
- predicted visceral adipose tissue: risk percentile 17%, coverage 97%, PGS000844.
- waist circumference: risk percentile 17.5%, coverage 95%, PGS000828.
- two hour glucose during ogtt: risk percentile 6.8%, coverage 95%, PGS000839.
- glycated haemoglobin: risk percentile 15.8%, coverage 100%, PGS001953.
- high cholesterol: risk percentile 0.6%, coverage 90%, PGS000936.
Protein pathway context
- MEP1B: predicted level percentile 95.7%, R2 0.6752; pathway context only.
- PLB1: predicted level percentile 94.9%, R2 0.5555; pathway context only.
- DPEP1: predicted level percentile 92.3%, R2 0.548; pathway context only.
- MAN2B2: predicted level percentile 3.8%, R2 0.599; pathway context only.
- SERPINA12: predicted level percentile 15%, R2 0.5774; pathway context only.
- C1QTNF9: predicted level percentile 17.4%, R2 0.5406; pathway context only.
Candidate variants
- PCSK5 rs11144688 GG: snpedia_context.
- SLCO1C1 rs10770705 CC: snpedia_context.
- SUPT3H rs10948222 TT: snpedia_context.
- APOA1-AS,SIK3 rs10047462 TT: snpedia_context.
Skin, sun response, and retina
useful to review
Sun-response, basal-cell, macular, and retinal signals cluster together. This supports practical skin and eye protection without implying disease is present.
Full explanation
The evidence links skin, sun exposure, pigmentation context, and retinal aging. Basal-cell and sun-response signals are present, and eye-related signals include macular and retinal categories.
This does not mean skin cancer or eye disease is present. It means the genetic background makes light exposure and age-related skin-eye care more relevant than average.
Protein context points toward tissue barrier and structural pathways, which fits a skin and tissue-remodeling interpretation. Some eye signals are favorable, so this is not a blanket eye-risk conclusion.
This is worth reviewing if there are changing moles, non-healing skin spots, a strong history of sunburn, prior skin cancer, new central vision changes, distortion, sudden flashes or floaters, or a family history of macular degeneration.
What to watch forBe consistent with sun protection and routine skin and eye care, and seek review for changing skin lesions or new central-vision, flash, floater, or distortion symptoms.
Show technical evidence
Risk-score evidence
- basal cell carcinoma: risk percentile 92.5%, coverage 100%, PGS003416.
- childhood sunburn: risk percentile 90.9%, coverage 87%, PGS001257.
- skin changes due to chronic exposure to nonionising radiation: risk percentile 84.1%, coverage 83%, PGS000950.
- macular degenerationof retina nos: risk percentile 95.3%, coverage 100%, PGS001834.
- retinal disorders in diseases classified elsewhere: risk percentile 83.2%, coverage 80%, PGS001276.
- glaucoma: risk percentile 1.9%, coverage 100%, PGS001836.
Protein pathway context
- KLK12: predicted level percentile 94.3%, R2 0.7889; pathway context only.
- TNN: predicted level percentile 89.9%, R2 0.5604; pathway context only.
Candidate variants
- TYR rs1042602 CC: snpedia_context; Albinism or congenital nystagmus · Oculocutaneous albinism · SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN · Oculocutaneous albinism type 1B · Oculocutaneous albinism type 1A.
Immune signaling balance
background
Immune evidence is broad and mixed: inflammatory and blood-cell signals are present, while several allergy, asthma, and skin-inflammatory signals lean favorable.
Full explanation
The immune system section shows breadth rather than one single condition. Several immune-cell and inflammation-related signals appear, including monocyte, white-cell, basophil, complement, interferon, and receptor-pathway context.
At the same time, some allergy, asthma, eczema, and psoriasis-related signals lean favorable. That means the report should not turn this into an autoimmune or allergy diagnosis.
The protein lane is especially informative here, with many immune signaling and immune-calming pathways represented. Variant context adds interferon, HLA-related, and gut-immune background.
This category is worth discussing if there are recurrent unusual infections, persistent inflammatory symptoms, unexplained rashes, wheeze, autoimmune family history, or blood-count abnormalities on routine labs.
What to watch forTreat this as immune-background context; review it if recurrent infections, persistent inflammation, unusual rashes, wheeze, autoimmune family history, or blood-count changes appear.
Show technical evidence
Risk-score evidence
- monocyte count: risk percentile 95.3%, coverage 100%, PGS001968.
- white blood cellcount: risk percentile 92%, coverage 96%, PGS003924.
- basophil count: risk percentile 93%, coverage 84%, PGS000163.
- basophil percentage: risk percentile 80.2%, coverage 96%, PGS003945.
- atopic eczema or atopic disease: risk percentile 2.8%, coverage 98%, PGS003459.
- asthma: risk percentile 6.8%, coverage 100%, PGS001849.
Protein pathway context
- CSF2RB: predicted level percentile 0%, R2 0.6449; pathway context only.
- FCGR2A: predicted level percentile 4.2%, R2 0.5811; pathway context only.
- PGLYRP2: predicted level percentile 4.9%, R2 0.5671; pathway context only.
- IL1RAP: predicted level percentile 94.1%, R2 0.706; pathway context only.
- IFNGR2: predicted level percentile 93.4%, R2 0.6902; pathway context only.
- LILRB2: predicted level percentile 90.3%, R2 0.5829; pathway context only.
Candidate variants
- LOC105369984 rs10774624 GG: snpedia_context.
- SQRDL rs1044032 TT: snpedia_context.
- IL23R rs11209026 GG: snpedia_context.
Airway, snoring, and sleep rhythm
background
Airway-ratio, snoring, sleep duration, and chronotype signals are present, while asthma and chronic obstruction signals lean favorable. This points to performance and sleep quality more than disease.
Full explanation
The airway and sleep category is mixed. A lower airway-ratio signal and a snoring signal appear, but asthma and chronic airway obstruction signals lean favorable.
Sleep duration, chronotype, and daytime-dozing context add a rhythm and recovery layer. This can matter for training, energy, and cardiometabolic habits even when no medical condition is present.
Protein context links airway-barrier and immune-inflammatory pathways, which fits the idea that airway comfort and sleep quality may be practical levers.
This is worth reviewing if there is loud snoring, witnessed pauses in breathing, unrefreshing sleep, morning headaches, unexplained daytime sleepiness, new exercise breathlessness, wheeze, or a major change in sleep schedule or recovery.
What to watch forUse sleep quality and breathing comfort as performance markers; review loud snoring, witnessed pauses, unrefreshing sleep, wheeze, or new exercise breathlessness.
Show technical evidence
Risk-score evidence
- snoring: risk percentile 96%, coverage 100%, PGS002006.
- sleep duration: risk percentile 84.2%, coverage 100%, PGS001978.
- chronotype: risk percentile 85.9%, coverage 100%, PGS001992.
- daytime dozing sleeping: risk percentile 12.2%, coverage 100%, PGS001995.
- pef pred ratio: risk percentile 3.6%, coverage 93%, PGS001010.
- chronic airway obstruction: risk percentile 16.7%, coverage 100%, PGS001850.
Protein pathway context
- KLK12: predicted level percentile 94.3%, R2 0.7889; pathway context only.
- IL1RAP: predicted level percentile 94.1%, R2 0.706; pathway context only.
- IFNGR2: predicted level percentile 93.4%, R2 0.6902; pathway context only.
Joint, spine, and fall resilience
background
Joint, knee, spine, foot-structure, and fall signals are present, but grip-strength and several injury-related signals are favorable. This supports progressive strength and joint-friendly conditioning.
Full explanation
The musculoskeletal picture is mixed. Osteoarthritis, knee arthrosis, spine-disc, foot-shape, and falls-related signals appear, which makes joint and movement mechanics worth including.
There are protective signals too: grip strength is favorable, and some fracture, knee-derangement, and pain-related signals lean reassuring. That suggests the right response is not avoidance, but progressive conditioning.
The protein lane adds cartilage, tissue framework, and matrix-remodeling context, which fits a practical focus on load management, strength, mobility, and recovery.
This is worth reviewing if there is persistent joint swelling, repeated falls, new balance problems, progressive back or knee pain, foot pain that changes gait, or training soreness that does not settle with sensible recovery.
What to watch forUse progressive strength, balance work, and low-impact conditioning; review persistent joint swelling, repeated falls, gait changes, or back and knee pain that does not settle.
Show technical evidence
Risk-score evidence
- osteoarthritis: risk percentile 87.5%, coverage 89%, PGS001290.
- gonarthrosis arthrosis of knee: risk percentile 85.2%, coverage 90%, PGS001192.
- other intervertebral disk disorders: risk percentile 80.8%, coverage 88%, PGS000932.
- falls in the last year: risk percentile 80.9%, coverage 100%, PGS001916.
- hallux valgus: risk percentile 82.4%, coverage 100%, PGS001881.
- internal derangement of knee: risk percentile 9.2%, coverage 83%, PGS001027.
Protein pathway context
- CRTAC1: predicted level percentile 13.4%, R2 0.5057; pathway context only.
- TNN: predicted level percentile 89.9%, R2 0.5604; pathway context only.
- MMP3: predicted level percentile 81.8%, R2 0.5052; pathway context only.
Candidate variants
- WTAPP1 rs11225434 TT: snpedia_context.
Liver-kidney chemistry context
background
Several inherited signals relate to routine chemistry markers such as protein balance, liver enzymes, bilirubin, kidney filtration, and urine electrolytes. This is lab-context, not a disease call.
Full explanation
This category is best understood as background for interpreting routine labs. The evidence includes albumin, total protein, liver-enzyme, bilirubin, kidney-filtration, urine electrolyte, creatinine, microalbumin, and cystatin-related signals.
Some signals lean higher and others are favorable, so this should not be read as kidney or liver disease. It means genetics may slightly shape where lab values tend to sit.
Protein and variant context add kidney-membrane, liver-inflammatory, hormone, amino-acid, iron, and fatty-acid background. These are pathway clues, not measured blood or urine results.
This is worth reviewing if routine labs show persistent liver-enzyme changes, bilirubin changes, abnormal kidney filtration, protein in urine, unusual electrolyte patterns, unexplained fatigue, swelling, jaundice, or medication decisions that depend on liver or kidney handling.
What to watch forUse this as context if routine liver, kidney, urine-protein, bilirubin, or electrolyte results are repeatedly outside range, especially before medicines cleared through liver or kidneys.
Show technical evidence
Risk-score evidence
- albumin: risk percentile 99.8%, coverage 100%, PGS001886.
- total protein: risk percentile 98.5%, coverage 100%, PGS002001.
- aspartate aminotransferase u l: risk percentile 95.2%, coverage 92%, PGS000673.
- phosphate mmol l: risk percentile 93.6%, coverage 92%, PGS000692.
- estimated glomerular filtration rate: risk percentile 89.7%, coverage 100%, PGS000884.
- potassium in urine: risk percentile 91.4%, coverage 100%, PGS001974.
Protein pathway context
- DPEP1: predicted level percentile 92.3%, R2 0.548; pathway context only.
- LECT2: predicted level percentile 16.6%, R2 0.5765; pathway context only.
- CGA: predicted level percentile 87.1%, R2 0.5201; pathway context only.
- XPNPEP2: predicted level percentile 11.6%, R2 0.5305; pathway context only.
Candidate variants
- LOC107984063 rs10211524 GG: snpedia_context.
- APOA1-AS,SIK3 rs10047462 TT: snpedia_context.
Thyroid, hormone, and B12 background
background
Thyroid, testosterone, growth-factor, and B12-related anemia signals appear with endocrine protein context. This is background unless symptoms or lab changes make it relevant.
Full explanation
The hormone category includes thyroid, testosterone, growth-factor, and B12-related anemia signals. In a female profile, testosterone-related genetics can be relevant to energy, cycle patterns, skin, hair, and body composition, but it does not imply a hormone disorder.
The protein evidence includes hormone and reproductive-pathway context. These are genetically predicted pathway signals, not measured hormone levels.
The B12-related signal should not be turned into a supplement recommendation. It is more useful as a reminder that diet pattern, symptoms, and lab results matter if anemia or nerve symptoms ever become relevant.
This is worth discussing if there are persistent fatigue, cold intolerance, hair or skin changes, menstrual irregularity, acne or unwanted hair growth, unexplained anemia, numbness, tingling, or abnormal thyroid, B12, testosterone, or related labs.
What to watch forKeep this as hormone and nutrient-background context; review it if fatigue, cycle changes, hair or skin changes, anemia, numbness, or thyroid, B12, or hormone labs become relevant.
Show technical evidence
Risk-score evidence
- hypothyroidism myxoedema: risk percentile 89.3%, coverage 93%, PGS000965.
- serum testosterone levels: risk percentile 84.1%, coverage 93%, PGS000321.
- testosterone: risk percentile 83.8%, coverage 100%, PGS001914.
- igf 1: risk percentile 87.5%, coverage 100%, PGS001960.
- vitamin b12 deficiency induced anemia: risk percentile 87.4%, coverage 86%, PGS001305.
- nontoxic multinodular goiter: risk percentile 19.8%, coverage 100%, PGS001814.
Protein pathway context
- CGA: predicted level percentile 87.1%, R2 0.5201; pathway context only.
- TEX101: predicted level percentile 90.6%, R2 0.5681; pathway context only.
- ZP3: predicted level percentile 86.2%, R2 0.7546; pathway context only.
- FSHB: predicted level percentile 80.8%, R2 0.6068; pathway context only.
Brain, nerve, hearing, and mood-background
background
Brain-region, nerve, hearing, sleep, and social-emotional signals appear, while several mood-related signals lean favorable. This belongs in background rather than medical-risk framing.
Full explanation
This category is deliberately framed as background. The evidence includes research-only brain-structure context, peripheral nerve and hearing signals, sleep rhythm, and some social-emotional traits.
Several mood-related inherited signals lean favorable, including depression-related and stress-related categories. That protective context matters and keeps the interpretation from becoming a one-sided brain-risk story.
The neurological protein signal points toward nerve-cell connection and organization. That is interesting pathway context, not a diagnosis and not a claim about personality, cognition, or brain health.
This is worth reviewing if there are new or progressive nerve symptoms, numbness, tingling, weakness, hearing changes, memory concerns, major mood changes, or sleep disruption that affects daily function.
What to watch forTreat this as brain and sensory background; review new nerve symptoms, hearing changes, memory concerns, major mood changes, or sleep disruption that affects daily life.
Show technical evidence
Risk-score evidence
- volume of ventricular cerebrospinal fluid: risk percentile 95.9%, coverage 87%, PGS001070.
- amyloid beta 42: risk percentile 88.6%, coverage 100%, PGS003762.
- volume of caudate: risk percentile 87.6%, coverage 89%, PGS001543.
- volume of brain stem 4th ventricle: risk percentile 85.5%, coverage 88%, PGS001539.
- other peripheral nerve disorders: risk percentile 95.9%, coverage 100%, PGS001832.
- hearing difficulty problems: risk percentile 81.5%, coverage 100%, PGS001891.
Protein pathway context
- MDGA1: predicted level percentile 99.9%, R2 0.7077; pathway context only.
Candidate variants
- CACNA1C rs1006737 GG: snpedia_context; Post-traumatic stress disorder.
- Variant rs10427255 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
POOR METABOLIZER
*3/*3
Affected drugs: Tacrolimus, Sirolimus
UGT1A1
INDETERMINATE
*1/*80
Affected drugs: Irinotecan, Atazanavir
CYP2B6
INTERMEDIATE METABOLIZER
*1/*9
Affected drugs: Efavirenz, Bupropion, Methadone
NAT2
POOR METABOLIZER
*16/*30
Affected drugs: hydralazine
This report comes from consumer microarray data with statistical imputation. Confirm clinically before changing prescriptions.