Research — GeneOps

rs13408661 — IL1RL1

Chromosome 2 Risk Allele A Category Allergy & Atopic Disease Asthma, Autoimmune, Inflammation, Immune Response, Lung Health, Immune Function

Intronic variant in IL1RL1 (encoding the ST2 receptor for IL-33) tagging haplotypes associated with lower soluble ST2 (sST2) levels; reduced sST2 decoy activity allows more unchecked IL-33 signaling, increasing type 2 inflammatory tone and susceptibility to asthma

rs145999145 — PLD3 V232M

Chromosome 19 Risk Allele A Category Neurology & Cognition Alzheimer's, Neurodegeneration, Cognitive Decline, Autophagy, Brain Health, Dementia

Rare missense variant in the lysosomal exonuclease PLD3 that impairs endolysosomal function and amyloid precursor protein processing, associated with approximately doubled late-onset Alzheimer's disease risk in the discovery cohort (OR ~2.10) and a pooled OR of 1.53 in meta-analysis; replication has been inconsistent across large European cohorts.

rs162036 — MTRR K350R (Lys350Arg)

Chromosome 5 Risk Allele G Category Methylation & Detox Methylation, B Vitamins, Homocysteine, Vitamin B12, Fertility, Methylation & Detox

MTRR cobalamin-reactivation variant — reduces B12 recycling efficiency and modulates folate-therapy response

rs1797912 — PPARG PPARG intronic haplotype variant

Chromosome 3 Risk Allele A Category Fat Storage & Energy Adipogenesis, Metabolic Syndrome, Metabolic Health, Fat Distribution, Obesity, Cardiovascular

Intronic PPARG variant in the same haplotype block as rs1175543; the C allele is protective against metabolic syndrome (p=0.011) and was one of six PPARG SNPs significantly associated with body weight reduction during calorie restriction

rs1815739 — ACTN3 R577X

Chromosome 11 Risk Allele T Category Fitness & Body Fitness, Muscle, Sprint & Power, Endurance, Injury Risk, Cardiovascular

Determines presence of alpha-actinin-3 protein in fast-twitch muscle fibers, influencing sprint/power vs endurance capacity

rs1884614 — HNF4A HNF4A P2 Promoter rs1884614

Chromosome 20 Risk Allele T Category Hormones & Sleep Pancreatic Beta Cell, Insulin, Hormones, Fasting Glucose, Metabolic Health, Diabetes

Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele impairs glucose-stimulated insulin secretion — particularly in non-obese individuals — by reducing beta-cell-specific HNF4A isoform expression, and confers elevated diabetes risk with a notably strong effect under metabolic stress (OR 2.44 for post-transplant diabetes)

rs2000813 — LIPG

Chromosome 18 Risk Allele T Category Triglycerides & Fatty Acids Cholesterol, Fat Metabolism, Cardiovascular, Diet, Triglycerides

Missense variant in endothelial lipase that tags a regulatory haplotype associated with modestly higher HDL cholesterol through reduced LIPG expression

rs2237583 — PON1 PON1 intron variant

Chromosome 7 Risk Allele C Category Vascular Inflammation & Remodeling Cardiovascular, Antioxidants, HDL Cholesterol, Oxidative Stress, Atherosclerosis

Intronic PON1 variant that modulates arylesterase activity of the HDL-bound antioxidant enzyme paraoxonase-1, influencing protection against LDL oxidation and atherosclerosis

rs2274700 — CFH A473A

Chromosome 1 Risk Allele G Category Longevity & Aging Eye Health, Aging, Complement System, Longevity, Inflammation, Retinal Health

Synonymous CFH variant in complete LD with rs1410996 that tags the complement-dysregulation haplotype driving age-related macular degeneration; G allele (risk) impairs complement regulation on retinal surfaces

rs2853579 — ABCA1

Chromosome 9 Risk Allele G Category Cholesterol & Lipoproteins Fat Metabolism, Cholesterol, HDL Cholesterol, Cardiovascular, LDL Cholesterol

Synonymous coding variant in ABCA1 that tags a regulatory element influencing transporter expression; the common G allele associates with the population-average HDL baseline, while the rare T allele associates with modestly higher HDL-cholesterol