Research — GeneOps

rs10938397 — GNPDA2

Chromosome 4 Risk Allele G Category Appetite & Obesity Obesity, Metabolic, Fat Metabolism, Diabetes, Insulin Resistance, Diet

GIANT consortium GWAS obesity locus near GNPDA2 — affects hexosamine-pathway-mediated glucose homeostasis and adipogenesis, increasing BMI risk

rs10947690 — MDGA1 Leu61Pro

Chromosome 6 Risk Allele G Category Hormones & Sleep Sleep, Neurotransmitters, Brain Health, Mental Health, Anxiety

Missense variant in the inhibitory synapse regulator MDGA1 that impairs neuroligin-2/neurexin interaction, reducing GABAergic tone and increasing insomnia risk

rs10980705 — LPAR1

Chromosome 9 Risk Allele T Category Fitness & Body Joints, Cartilage, Inflammation, Injury Risk, Arthritis, Sports Injury

Upstream regulatory variant that increases LPAR1 transcriptional activity in synovial cells, associated with elevated knee osteoarthritis susceptibility in Japanese populations

rs11031006 — FSHB

Chromosome 11 Risk Allele A Category Fertility & Ovarian Function Fertility, Hormones, Gonadotropins, Reproductive Health, Male Fertility, PCOS

Distal enhancer variant ~26 kb upstream of FSHB associated with FSH levels, dizygotic twinning, PCOS susceptibility, age at menopause, and male reproductive parameters

rs11071559 — RORA

Chromosome 15 Risk Allele C Category Allergy & Atopic Disease Circadian, Sleep, Asthma, Inflammation, Immune Function

Intronic variant in the circadian clock regulator RORA; the T allele is protective against asthma in European cohorts with genome-wide significant replication

rs11212617 — ATM

Chromosome 11 Risk Allele A Category Longevity & Aging Longevity, Aging, DNA Repair, Diabetes, Insulin, Autophagy

Intronic variant near the ATM gene affecting metformin's activation of AMPK; the C allele confers improved glycemic response to metformin and links the DNA damage response pathway to longevity-relevant AMPK-mTOR signaling

rs11599236 — SORCS3 SORCS3 Neurotrophin Sorting

Chromosome 10 Risk Allele C Category Mood & Behavior Mood, Anxiety, Neuroplasticity, Cognition, Brain Health, Neurotransmitters

Intronic variant in the BDNF-receptor trafficking gene SORCS3, associated with mood instability, neuroticism, reduced wellbeing, and cross-disorder psychiatric risk across multiple large GWAS

rs1173771 — NPR3 NPR3 promoter variant

Chromosome 5 Risk Allele G Category Blood Pressure & Hypertension Blood Pressure, Cardiovascular, Hypertension, Heart Disease, Kidney

Regulatory variant near the NPR3 transcription start site that reduces natriuretic peptide clearance receptor expression in vascular smooth muscle and endothelial cells, raising blood pressure by impairing ANP and BNP removal from circulation

rs119103258 — PYGM

Chromosome 11 Risk Allele G Category Metabolic Enzymes & Rare Disorders Muscle, Energy Metabolism, Exercise, Carrier Status, Metabolic, Genetic Counseling

Pathogenic missense variant in muscle glycogen phosphorylase causing post-translational protein loss; homozygous or compound heterozygous carriers develop McArdle disease (glycogen storage disease type V), the second most common PYGM pathogenic allele in Spanish populations

rs11942223 — SLC2A9

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

Intronic SLC2A9 variant tagging an independent urate-transport signal; the protective C allele (~26% global frequency) reduces serum uric acid by 0.23–0.46 mg/dL per copy — with a substantially stronger effect in women — and attenuates the hyperuricemic response to fructose; the major T allele confers elevated uric acid and increased gout risk, particularly in Europeans