Research — GeneOps

rs2325751 — PNPO

Chromosome 17 Risk Allele G Category Hormones & Sleep Sleep, Neurotransmitters, B Vitamins, Homocysteine, Neurological Risk, Serotonin

Regulatory variant 2 kb upstream of PNPO that may alter expression of the vitamin B6-activating enzyme; the G allele shows the strongest single-SNP association with schizophrenia among PNPO variants in a Japanese population study, implicating impaired PLP production in psychiatric risk

rs2954021 — TRIB1

Chromosome 8 Risk Allele G Category Triglycerides & Fatty Acids Triglycerides, Cardiovascular, Cholesterol, Fat Metabolism, Diet

Near-gene variant influencing hepatic lipid metabolism; G allele raises triglycerides and LDL while A allele increases liver enzyme levels and fatty liver risk

rs350845 — SIRT6

Chromosome 19 Risk Allele G Category Longevity & Aging Longevity, Aging, Telomere Biology, DNA Repair, Inflammation

Intronic eQTL in SIRT6 where the rare A allele upregulates SIRT6 expression across 18 tissue types and is enriched in Ashkenazi Jewish centenarians, linking higher SIRT6 activity to improved genomic stability and longevity

rs5743836 — TLR9 Promoter -1237T/C

Chromosome 3 Risk Allele G Category Innate Immunity & Infection Defense Innate Immunity, Infectious Disease, Immune & Gut, Inflammation, Autoimmune, Immune System

TLR9 promoter variant that creates an IL-6-responsive element and estrogen-sensitive transcription site, amplifying innate immune signaling and increasing lymphoma susceptibility while modulating malaria, HCV, and thrombosis outcomes

rs60910145 — APOL1 G1 I384M

Chromosome 22 Risk Allele G Category Cholesterol & Lipoproteins Kidney Disease, Cardiovascular, Inflammation, Infectious Disease, Ancestry

Second component of the APOL1 G1 kidney disease risk haplotype — a missense variant that, together with rs73885319 (S342G), confers 7- to 29-fold increased risk for non-diabetic CKD under a recessive inheritance model in African-ancestry populations

rs6133175 — SLC23A2

Chromosome 20 Risk Allele A Category Vitamins & Nutrient Absorption Vitamin C, Vitamins, Diet, Micronutrients, Antioxidants

Intronic variant in the tissue vitamin C transporter SVCT2 — GG homozygotes carry ~24% higher plasma vitamin C levels than AA homozygotes

rs700651 — BOLL

Chromosome 2 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Cerebrovascular, Angiogenesis, Blood Pressure, Inflammation, Heart Disease

Intronic variant near the BOLL gene associated with increased intracranial aneurysm susceptibility, replicated across European, Japanese, and Korean populations.

rs72704544 — GPM6A GPM6A Neuronal Membrane Glycoprotein

Chromosome 4 Risk Allele G Category Mood & Behavior Anxiety, Neuroplasticity, Stress Response, Mood, Serotonin, Brain Health

Intronic variant in the neuronal membrane glycoprotein M6a gene — a stress-downregulated scaffold protein critical for dendritic spine formation and synaptic plasticity; G allele associated with anxiety disorders in a major multi-ancestry GWAS

rs7647305 — ETV5

Chromosome 3 Risk Allele C Category Appetite & Obesity Obesity, Appetite, Dopamine, Cortisol, HPA Axis, Metabolic

GWAS obesity locus near ETV5 — affects hypothalamic appetite regulation and food reward circuitry via glucocorticoid signaling

rs854555 — PON1 PON1 3'UTR variant

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

Intronic/downstream PON1 haplotype-tagging variant associated with PON1 activity levels; the A allele tracks with lower PON1 antioxidant enzyme function on HDL, increasing vulnerability to LDL oxidation and cardiovascular risk