Research — GeneOps

rs28936415 — PMM2 R141H

Chromosome 16 Risk Allele A Category Metabolic Enzymes & Rare Disorders Congenital, Carrier Status, Genetic Counseling, Micronutrients, Metabolic, Neurological Risk

The most common pathogenic PMM2 variant, causing phosphomannomutase 2 deficiency and PMM2-CDG (congenital disorder of glycosylation type Ia) when inherited in compound heterozygous form; homozygous R141H is embryonic lethal

rs28942084 — LDLR LDLR Pro685Leu

Chromosome 19 Risk Allele T Category Cholesterol & Lipoproteins Cholesterol, Cardiovascular, Fat Metabolism, Statins, LDL Cholesterol

Pathogenic LDLR missense variant in the EGF precursor domain causing familial hypercholesterolemia with severely elevated LDL-C and early cardiovascular disease

rs35936514 — LHPP LHPP depression risk variant

Chromosome 10 Risk Allele T Category Mood & Behavior Depression, Stress Response, Neuroplasticity, Mental Health, Mood, Brain Health

Intronic/3'UTR variant in LHPP, a histidine phosphatase essential for stress resilience in the prefrontal cortex — the T allele is associated with increased risk for major depressive disorder, particularly following chronic stress

rs3850641 — TNFSF4 TNFSF4 (OX40L) Intron 1 Variant

Chromosome 1 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Atherosclerosis, Autoimmunity, T-Cell Regulation, Inflammation

Intronic variant in TNFSF4 (OX40 ligand) linked to a promoter haplotype that reduces OX40L expression; homozygous G carriers show approximately 2-fold increased myocardial infarction risk in some populations, with the strongest signal in women

rs3890745 — MMEL1 MMEL1 rs3890745

Chromosome 1 Risk Allele C Category TNF, NF-kB & Inflammatory Cytokines Rheumatoid Arthritis, Autoimmune, Immune & Autoimmune, T-Cell Regulation, B-Cell Signaling, Inflammation

Intronic variant near MMEL1 and TNFRSF14 on chromosome 1p36; the C allele is associated with increased susceptibility to rheumatoid arthritis and other autoimmune conditions through disrupted immune costimulatory signaling at the HVEM/LIGHT/BTLA axis

rs396991 — FCGR3A V158F

Chromosome 1 Risk Allele C Category Innate Immunity & Infection Defense Immune & Gut, Pharmacogenomics, Innate Immunity, Autoimmune, Cancer Treatment, Drug Response

Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell IgG binding affinity and antibody-dependent cellular cytotoxicity — major pharmacogenomic factor for monoclonal antibody therapy response

rs397507173 — BTD

Chromosome 3 Risk Allele T Category Vitamins & Nutrient Absorption B Vitamins, Micronutrients, Carrier Status, Metabolic, Neurological Risk, Vitamins

Rare missense variant in the biotinidase enzyme (p.Pro167Ser); a likely pathogenic allele for biotinidase deficiency. Heterozygous carriers have reduced but usually sufficient biotinidase activity; compound heterozygosity with other BTD pathogenic variants can cause partial or profound deficiency requiring lifelong biotin supplementation.

rs397514752 — MYBPC3 Gly490Val

Chromosome 11 Risk Allele A Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Genetic Counseling, Carrier Status, Congenital

Ultra-rare autosomal recessive MYBPC3 missense variant; homozygotes develop severe HCM while heterozygous carriers remain clinically unaffected up to age 71 in the single reported family

rs4072037 — MUC1

Chromosome 1 Risk Allele T Category IBD & Mucosal Immunity H. pylori, Gut Microbiome, Digestive Health, Gastric Health

Mucin-1 gene variant affecting gastric mucus barrier function and H. pylori colonization resistance

rs509035 — GHSR GHSR Metabolic Syndrome Variant

Chromosome 3 Risk Allele A Category Appetite & Obesity Appetite, Obesity, Metabolic Health, Hormones, Fat Metabolism, Insulin

Intronic variant in the ghrelin receptor gene; the A allele is associated with higher fat-free mass, greater stature, and elevated serum IGF-1, reflecting enhanced GHSR-driven growth hormone pulsatility and its downstream anabolic effects on body composition