hu6B7829 Frozen Validation Report
342 PRS models · 1,636 protein predictions · 136 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 bile handling
near-term focus
This is the clearest near-term theme: several inherited signals point toward gallstones, gallbladder inflammation, and bile-duct sensitivity.
Full explanation
Your strongest cluster is around the gallbladder and bile system. Several separate inherited signals point in the same direction, which makes this more coherent than a single isolated result.
This does not mean you have gallstones or gallbladder disease. It means this body system may be a place where genetics gives less margin, especially when paired with rapid weight change, very high-fat meals, long gaps without eating, or a family history of gallbladder issues.
This is worth discussing or reviewing if you ever have repeated right-upper-belly pain, pain after rich meals, nausea with fatty foods, unexplained fever with abdominal pain, yellowing of the skin or eyes, or a strong family history of gallbladder surgery.
What to watch forKeep meals steady, avoid crash dieting, and bring up gallbladder symptoms promptly if right-upper-belly pain or fatty-food intolerance appears.
Show technical evidence
Risk-score evidence
- cholelithiasis and cholecystitis: risk percentile 99.8%, coverage 100%, PGS001861.
- other biliary tract disease: risk percentile 99%, coverage 100%, PGS001862.
- gallstones: risk percentile 94.1%, coverage 91%, PGS001256.
- cholelithiasis: risk percentile 87.1%, coverage 91%, PGS001174.
- cholecystitis: risk percentile 85.5%, coverage 88%, PGS000942.
Protein pathway context
- PLB1: predicted level percentile 2.3%, R2 0.5555; pathway context only.
- LECT2: predicted level percentile 6.7%, R2 0.5765; pathway context only.
Body composition and metabolic contrast
near-term focus
The body-size and waist signals are high, but diabetes, triglyceride, and cholesterol signals are relatively protective, creating a mixed metabolic profile.
Full explanation
Your inherited pattern suggests a tendency toward higher body weight, waist size, and stored body fat. That does not predict current weight or fitness, but it does suggest that body composition may respond strongly to sleep, training consistency, food environment, and life-stage changes.
The important nuance is that this is not a simple sugar-risk pattern. Several inherited signals for diabetes, glucose handling, triglycerides, and cholesterol are protective. That shifts the emphasis away from fear of sugar alone and toward keeping muscle, waist trend, energy, and long-term habits stable.
This is worth discussing or reviewing if there is a sustained change in waist size, unexplained weight gain, fatigue after meals, abnormal routine metabolic labs, a strong family history of diabetes or fatty-liver disease, or a performance drop despite consistent training.
What to watch forPrioritize strength training, regular protein-rich meals, high-fiber carbohydrates, and waist-trend awareness rather than extreme dieting.
Show technical evidence
Risk-score evidence
- overweight obesity and other hyperalimentation: risk percentile 99.5%, coverage 100%, PGS001825.
- obesity: risk percentile 97%, coverage 96%, PGS003959.
- predicted visceral adipose tissue: risk percentile 96.1%, coverage 97%, PGS000844.
- body mass index: risk percentile 88.3%, coverage 97%, PGS000830.
- log triglycerides: risk percentile 1.9%, coverage 100%, PGS003801.
- incident type 2 diabetes: risk percentile 10.5%, coverage 99%, PGS002779.
Protein pathway context
- PLB1: predicted level percentile 2.3%, R2 0.5555; pathway context only.
- LECT2: predicted level percentile 6.7%, R2 0.5765; pathway context only.
- FSHB: predicted level percentile 3.5%, R2 0.6068; pathway context only.
Candidate variants
- PCSK5 rs11144688 GG: snpedia_context.
- Variant rs10937273 GG: snpedia_context.
- ZNF483 rs10441737 TT: snpedia_context.
- LOC107984063 rs10211524 GG: snpedia_context.
- APOA1-AS,SIK3 rs10047462 TT: snpedia_context.
Immune and gut inflammation background
useful to review
There is a broad immune pattern spanning lupus-related, bowel-inflammation, celiac-related, skin-inflammation, and inflammatory-marker evidence.
Full explanation
Your immune evidence is broad rather than narrow. It includes inherited signals related to autoimmune conditions, gut inflammation, skin inflammation, and inflammatory blood markers, alongside immune-pathway protein evidence.
This does not diagnose an autoimmune or digestive condition. It suggests that inflammation-related symptoms would be more worth taking seriously if they were persistent, recurring, or clustered across body systems.
This is worth discussing or reviewing if there are recurring mouth ulcers, unexplained rashes, joint swelling, blood or mucus in stool, long-lasting digestive changes, unexplained fevers, unusual fatigue with inflammation, or a family history of autoimmune disease.
What to watch forIf persistent gut, skin, joint, or unexplained inflammatory symptoms appear, review them as a connected pattern rather than isolated issues.
Show technical evidence
Risk-score evidence
- lupus: risk percentile 99.7%, coverage 100%, PGS001870.
- systemic lupus erythematosus: risk percentile 81.5%, coverage 99%, PGS000771.
- crohn s disease: risk percentile 99.1%, coverage 83%, PGS001331.
- celiac disease: risk percentile 94.7%, coverage 100%, PGS001856.
- ulcerative colitis: risk percentile 84.3%, coverage 100%, PGS001855.
- c reactive protein mg l: risk percentile 90.2%, coverage 93%, PGS000675.
Protein pathway context
- IL7R: predicted level percentile 0.7%, R2 0.5305; pathway context only.
- SIGLEC5: predicted level percentile 1.2%, R2 0.505; pathway context only.
- LILRB2: predicted level percentile 1.5%, R2 0.5829; pathway context only.
- IL1RL1: predicted level percentile 97.4%, R2 0.5009; pathway context only.
- MICB_MICA: predicted level percentile 95.3%, R2 0.7159; pathway context only.
- TPSAB1: predicted level percentile 93.4%, R2 0.5954; pathway context only.
Candidate variants
- Variant rs10892279 GG: snpedia_context.
- Variant rs10484561 TT: snpedia_context.
Skin, hair, and barrier resilience
useful to review
Skin and hair-follicle signals are strong, with extra context around sun response, inflammatory skin patterns, and skin-barrier proteins.
Full explanation
Your skin-related evidence is one of the more visible trait clusters. It includes signals around sebaceous cysts, hair follicles, sun response, skin changes from long-term sun exposure, psoriasis, eczema or atopy, and superficial skin infection or abscess tendency.
There is also some protective context for other dermatitis and seborrheic keratosis, so the pattern is not simply all adverse. The practical reading is that skin barrier, follicles, sun exposure, and inflammation may be more informative than any one label.
This is worth discussing or reviewing if cysts, recurrent painful bumps, slow-healing inflamed skin, unusual sun sensitivity, changing lesions, or persistent scalp or hair-follicle issues become noticeable.
What to watch forUse consistent sun protection and treat recurrent inflamed follicles, cysts, or unusual skin changes as worth reviewing rather than ignoring.
Show technical evidence
Risk-score evidence
- sebaceous cyst: risk percentile 99.9%, coverage 100%, PGS001874.
- diseases of hair and hair follicles: risk percentile 99.6%, coverage 100%, PGS001873.
- childhood sunburn: risk percentile 99.2%, coverage 87%, PGS001257.
- superficial cellulitis and abscess: risk percentile 95.9%, coverage 100%, PGS001869.
- skin changes due to chronic exposure to nonionising radiation: risk percentile 90.6%, coverage 83%, PGS000950.
- psoriasis: risk percentile 89.4%, coverage 90%, PGS001313.
Protein pathway context
- KLK12: predicted level percentile 95.4%, R2 0.7889; pathway context only.
- PRSS53: predicted level percentile 5.1%, R2 0.5164; pathway context only.
- TPSAB1: predicted level percentile 93.4%, R2 0.5954; 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.
Heart structure and circulation contrast
useful to review
Some heart-structure and circulation signals are elevated, while blood pressure, cholesterol, clotting, angina, and heart-attack signals look protective.
Full explanation
Your heart evidence is mixed in a useful way. Signals related to heart size, heart-failure context, aortic diameter, and broad circulatory disease are elevated.
At the same time, several classic vascular signals point in a favorable direction, including blood pressure, chronic ischemic disease, heart attack, angina, clotting, cholesterol, and triglycerides. That means the main theme is not classic clogged-artery risk; it is more about structure, load, conditioning, and symptom context.
This is worth discussing or reviewing if there is exertional chest discomfort, unusual breathlessness, fainting, racing heartbeat, swelling, a known murmur, a family history of aortic or heart-muscle disease, or a major change in exercise tolerance.
What to watch forBuild aerobic fitness gradually and review new exertional symptoms, fainting, palpitations, or strong family history with a clinician.
Show technical evidence
Risk-score evidence
- left ventricular mass index: risk percentile 99.1%, coverage 100%, PGS003427.
- congestive heart failure nonhypertensive: risk percentile 95.5%, coverage 100%, PGS001842.
- ascending thoracic aortic diameter: risk percentile 89.2%, coverage 91%, PGS002267.
- circulatory disease nec: risk percentile 85.3%, coverage 100%, PGS001847.
- angina pectoris: risk percentile 3.7%, coverage 89%, PGS001261.
- chronic ischaemic heart disease: risk percentile 4.1%, coverage 88%, PGS000962.
Protein pathway context
- PZP: predicted level percentile 1.8%, R2 0.5407; pathway context only.
- LECT2: predicted level percentile 6.7%, R2 0.5765; pathway context only.
- ICAM2: predicted level percentile 18%, R2 0.5536; pathway context only.
Sleep, mood, and recovery load
useful to review
Sleep, snoring, tiredness, mood, headache, and reward-related signals cluster together, so recovery quality is a practical focus.
Full explanation
Your brain and recovery evidence clusters around sleep disruption, snoring, tiredness, mood vulnerability, headaches, alcohol-use context, and addiction-risk factors. These are tendencies, not predictions of behavior or mental health.
There is also protective context for post-traumatic stress and cognitive performance, so the useful interpretation is not that one outcome is expected. It is that sleep quality, stress load, alcohol exposure, and recovery routines may have outsized effects on wellbeing.
This is worth discussing or reviewing if loud snoring, witnessed pauses in breathing, persistent insomnia, recurring headaches, low mood, anxiety, loss of interest, or substance-use concerns become real-world issues.
What to watch forTreat sleep quality as a core performance lever, and review persistent insomnia, loud snoring, mood changes, recurring headaches, or alcohol-use concerns early.
Show technical evidence
Risk-score evidence
- snoring: risk percentile 98.6%, coverage 100%, PGS002006.
- sleeplessness insomnia: risk percentile 98%, coverage 100%, PGS001932.
- major depression: risk percentile 88.5%, coverage 97%, PGS000141.
- lifetime major depressive disorder: risk percentile 81.4%, coverage 98%, PGS000139.
- addiction risk factors: risk percentile 97.5%, coverage 100%, PGS005215.
- alcohol use disorder: risk percentile 96.7%, coverage 100%, PGS002739.
Candidate variants
- Variant rs10427255 TT: snpedia_context.
Kidney, minerals, and hydration sensitivity
useful to review
Kidney-stone, urate, creatinine-related, urine-mineral, and hydration-linked signals form a practical kidney and mineral-handling theme.
Full explanation
Your kidney-related evidence includes signals around kidney stones, urate, creatinine-related measures, cystatin-related measures, urine minerals, and water intake. Very low calcium and phosphate signals add a mineral-handling contrast.
This does not mean kidney disease is present. It suggests that hydration, stone history, urate context, and routine kidney-related labs would be more informative if anything changes clinically.
This is worth discussing or reviewing if there is flank pain, blood in urine, recurrent urinary pain, a personal or family history of kidney stones, gout-like symptoms, abnormal kidney labs, or medication use that affects kidney function.
What to watch forKeep hydration steady and review stone-like pain, blood in urine, gout-like symptoms, or abnormal kidney-related labs promptly.
Show technical evidence
Risk-score evidence
- calculus of kidney and ureter: risk percentile 83.5%, coverage 78%, PGS001250.
- serum urate: risk percentile 88.8%, coverage 99%, PGS000126.
- creatininein urine: risk percentile 98.2%, coverage 100%, PGS001944.
- creatinine: risk percentile 81.5%, coverage 100%, PGS001945.
- cystatin c mg l: risk percentile 87.6%, coverage 93%, PGS000680.
- potassium in urine: risk percentile 88%, coverage 100%, PGS001974.
Protein pathway context
- LCP1: predicted level percentile 0.3%, R2 0.5128; pathway context only.
- FUCA1: predicted level percentile 5.1%, R2 0.822; pathway context only.
Thyroid and hormone signaling background
background
A thyroid-nodule signal contrasts with protective hypothyroid signals, with reproductive hormone pathway context in the background.
Full explanation
Your hormone-related evidence is mixed. One thyroid-nodule signal is elevated, while hypothyroid-related signals are protective. That makes this a background category rather than a clear one-direction warning.
There is also genetically predicted hormone-pathway context and reproductive-timing context. For a female report, this is best interpreted as endocrine background that may become relevant if symptoms, labs, cycle changes, or life-stage changes point there.
This is worth discussing or reviewing if there is a new neck lump, trouble swallowing, unexplained heat or cold intolerance, marked hair or skin changes, cycle changes, fertility concerns, or abnormal thyroid or reproductive hormone labs.
What to watch forUse this as context if thyroid nodules, cycle changes, fertility questions, or abnormal hormone labs ever come up.
Show technical evidence
Risk-score evidence
- nontoxic multinodular goiter: risk percentile 88.9%, coverage 100%, PGS001814.
- hypothyroidism: risk percentile 11%, coverage 100%, PGS001816.
- hypothyroidism myxoedema: risk percentile 11.1%, coverage 93%, PGS000965.
- serum testosterone levels: risk percentile 84.7%, coverage 93%, PGS000321.
- estradiol 212 pmol l: risk percentile 14.2%, coverage 88%, PGS001182.
Protein pathway context
- FSHB: predicted level percentile 3.5%, R2 0.6068; pathway context only.
- INSL3: predicted level percentile 12%, R2 0.7312; pathway context only.
- ZP3: predicted level percentile 84%, R2 0.7546; pathway context only.
Candidate variants
- ZNF483 rs10980926 GG: snpedia_context.
- ZNF483 rs10441737 TT: snpedia_context.
Vision and eye-shape background
background
Eye-shape and visual-acuity signals are elevated, while myopia and macular-degeneration signals are protective.
Full explanation
Your vision evidence is mixed. Some signals relate to eye shape, visual focusing, and retinal context, while other eye-related signals point in a protective direction.
This does not predict a specific vision problem. It suggests that routine eye care and paying attention to changes in vision are the practical ways to use the information.
This is worth discussing or reviewing if there are new floaters, flashing lights, sudden vision change, distorted central vision, eye pain, major prescription change, or a strong family history of retinal disease.
What to watch forKeep routine eye exams current and review sudden vision changes, distortion, flashes, floaters, or eye pain without delay.
Show technical evidence
Risk-score evidence
- logmar in round: risk percentile 95.7%, coverage 100%, PGS001985.
- spherical power: risk percentile 92.1%, coverage 93%, PGS001100.
- retinal disorders in diseases classified elsewhere: risk percentile 83.3%, coverage 80%, PGS001276.
- myopia diagnosis: risk percentile 0.6%, coverage 100%, PGS001994.
- macular degenerationof retina nos: risk percentile 12.6%, coverage 100%, PGS001834.
Candidate variants
- CFH rs1061170 TT: uncertain_or_conflicting; Factor H deficiency · Age related macular degeneration 4 · CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II · Hemolytic uremic syndrome, atyp....
- CFH rs1061147 CC: snpedia_context.
Connective tissue, joints, and body frame
background
Connective-tissue, osteoarthritis, hernia, and body-frame signals are elevated, but knee and arthritis signals add protective nuance.
Full explanation
Your musculoskeletal evidence points toward connective tissue, body frame, osteoarthritis, and hernia-related context. This is not a diagnosis of a tissue disorder, but it does suggest that load management and injury prevention matter.
The pattern is not one-directional. Some arthritis and knee-related signals are protective, so the practical focus is not avoidance of activity. It is building strength, tissue tolerance, and joint control progressively.
This is worth discussing or reviewing if there is repeated joint swelling, unusual tendon or ligament injuries, persistent back or hip pain, hernia symptoms, joint instability, or a family history of connective-tissue problems.
What to watch forUse progressive strength work and mobility control, and review recurring joint swelling, instability, hernia symptoms, or unusual injuries.
Show technical evidence
Risk-score evidence
- diaphragmatic hernia: risk percentile 99.6%, coverage 90%, PGS001050.
- other systemic involvement of connective tissue: risk percentile 92.1%, coverage 86%, PGS000960.
- osteoarthritis: risk percentile 89.9%, coverage 89%, PGS001290.
- ankle spacing width: risk percentile 81.4%, coverage 93%, PGS001241.
- internal derangement of knee: risk percentile 3%, coverage 83%, PGS001027.
- arthritis: risk percentile 6.2%, coverage 88%, PGS001135.
Protein pathway context
- TNN: predicted level percentile 9.3%, R2 0.5604; pathway context only.
- CRTAC1: predicted level percentile 85.2%, R2 0.5057; pathway context only.
Cancer background and routine screening context
background
Cancer-related evidence is mixed: broad and digestive benign-growth signals are elevated, while ovarian, endometrial, and early colorectal signals are protective.
Full explanation
Your cancer-related evidence should be read as background, not alarm. A broad cancer-history signal and a benign digestive-growth signal are elevated, while several female-relevant or digestive cancer signals are protective.
Protein and variant evidence add pathway context, but none of this means cancer is present or expected. The useful action is to keep age-appropriate screening and family-history review aligned with normal medical guidance.
This is worth discussing or reviewing if there is a strong family history of cancer, unexplained weight loss, blood in stool, persistent pelvic symptoms, unusual bleeding, a new lump, or any abnormal screening result.
What to watch forKeep routine screening aligned with age and family history, and use this background if symptoms or screening results become abnormal.
Show technical evidence
Risk-score evidence
- number of self reported cancers: risk percentile 97.7%, coverage 88%, PGS001005.
- benign neoplasm of other parts of digestive system: risk percentile 81%, coverage 100%, PGS001812.
- endometrial cancer: risk percentile 8.7%, coverage 96%, PGS002737.
Protein pathway context
- KLK12: predicted level percentile 95.4%, R2 0.7889; pathway context only.
- CEACAM21: predicted level percentile 9.6%, R2 0.6663; pathway context only.
- PSCA: predicted level percentile 85.2%, R2 0.7849; pathway context only.
Candidate variants
- LINC00824 rs10088218 GG: snpedia_context.
- Variant rs10484561 TT: snpedia_context.
Blood-cell and platelet trait background
background
Blood-cell and platelet signals are present, but they are best used as context for real lab results rather than as a standalone concern.
Full explanation
Your evidence includes platelet, red-cell, reticulocyte, lymphocyte, eosinophil, and basophil signals. Some point high and some point low, so the pattern is mixed.
This kind of genetic background is most useful when compared with actual blood counts. By itself, it does not say whether any blood value is abnormal.
This is worth discussing or reviewing if routine blood counts are repeatedly out of range, there is unusual bruising or bleeding, frequent infections, unexplained fatigue, or a clinician is already evaluating blood-cell or inflammatory markers.
What to watch forUse this as context if routine blood counts, bruising, bleeding, infections, or unexplained fatigue become clinically relevant.
Show technical evidence
Risk-score evidence
- platelet count: risk percentile 83.3%, coverage 96%, PGS003932.
- mean plateletvolume: risk percentile 1.5%, coverage 96%, PGS003934.
- haemoglobin concentration: risk percentile 4.3%, coverage 92%, PGS001400.
- haematocrit percentage: risk percentile 5.1%, coverage 100%, PGS001925.
- mean reticulocyte volume: risk percentile 87.2%, coverage 100%, PGS002003.
- red blood celldistribution width: risk percentile 81.7%, coverage 100%, PGS001908.
Protein pathway context
- CD33: predicted level percentile 92.4%, R2 0.7974; pathway context only.
- CSF2RB: predicted level percentile 80.2%, R2 0.6449; pathway context only.
- LCP1: predicted level percentile 0.3%, R2 0.5128; pathway context only.
Candidate variants
- RCL1 rs10758658 GG: snpedia_context.
- ATP2B4 rs10900585 TT: snpedia_context.
- GPT,LOC101928953 rs1063739 CC: snpedia_context.
- Variant rs11104870 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
NAT2
RAPID METABOLIZER
*4/*4
Affected drugs: hydralazine
ABCG2
DECREASED FUNCTION
rs2231142 reference (G)/rs2231142 variant (T)
Affected drugs: See CPIC guidance
This report comes from consumer microarray data with statistical imputation. Confirm clinically before changing prescriptions.