Research — GeneOps

rs6849729 — SLC2A9

Chromosome 4 Risk Allele T Category Uric Acid & Kidney Function Gout, Uric Acid, Kidney Function, Cardiovascular, Diet

Intronic SLC2A9 variant 70 bp from rs6815001 tagging the same renal urate-clearance haplotype; the T allele is associated with reduced urate excretion and elevated serum uric acid, while the C allele tags the protective haplotype that supports more efficient renal urate clearance

rs700519 — CYP19A1 Arg264Cys

Chromosome 15 Risk Allele A Category Reproductive Hormones Aromatase, Fertility, Reproductive Health, Estrogen, PCOS, Uterine Fibroids

Coding variant in aromatase that substitutes cysteine for arginine at position 264; in vitro evidence shows increased aromatase activity, with reported associations with PCOS risk and ART pregnancy outcomes in some populations

rs708272 — CETP TaqIB

Chromosome 16 Risk Allele G Category Atherogenic Lipoproteins Cardiovascular, Cholesterol, Longevity, Diet, Alcohol

Influences HDL cholesterol levels and particle size through effects on cholesterol ester transfer protein activity

rs7574865 — STAT4 Intron 3

Chromosome 2 Risk Allele T Category Interferon Signaling & Systemic Autoimmune Immune & Gut, Lupus, Interferon, Autoimmune, Rheumatoid Arthritis, Inflammation

Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response, conferring the strongest common genetic risk for lupus outside the HLA region

rs7759938 — LIN28B

Chromosome 6 Risk Allele T Category Fertility & Ovarian Function Puberty Timing, Fertility, Reproductive Health, Hormones, Uterine Fibroids

Regulatory variant near LIN28B associated with puberty timing — the T allele is linked to earlier menarche in females and earlier puberty in males, with implications for reproductive window length and age-at-onset of fertility

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.

rs1495377 — TSPAN8

Chromosome 12 Risk Allele G Category Blood Sugar & Diabetes Diabetes, Insulin, Pancreatic Beta Cell, Metabolic, Insulin Resistance, Metabolic Health

Intronic variant in TSPAN8 (Tetraspanin 8) associated with reduced insulin secretion and type 2 diabetes risk; the G allele impairs pancreatic beta-cell and alpha-cell function, reducing insulinogenic response to glucose

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