Research — GeneOps

rs1805086 Affects myostatin's ability to limit muscle growth, influencing muscle mass and strength response to training

Chromosome 2 Risk Allele C Category Fitness & Body Tags Muscle, Myostatin, Strength & Power, Sprint & Power, Exercise Performance, Fitness, Growth Factors

Myostatin is one of the most powerful negative regulators of skeletal muscle growth in the human body. Secreted by muscle cells, it acts as a biological brake, preventing muscles from growing too large. The K153R polymorphism (Lys153Arg) sits within the mature active...

rs184039278 Splice-site variant in the circadian clock gene CRY1 that causes exon 11 skipping, producing a gain-of-function protein that lengthens circadian period by ~30 minutes and drives Delayed Sleep Phase Disorder

Chromosome 12 Risk Allele G Category Hormones & Sleep Tags Sleep, Circadian, Chronotype, Melatonin, ADHD, Mental Health

Inside every cell of your body ticks a molecular clock, cycling with almost perfect 24-hour precision. The CRY1 protein is one of its master regulators — a transcriptional brake that keeps the CLOCK:BMAL1 activator complex from running perpetually. The CRY1Δ11 variant (c.1657+3AC on the coding strand,...

rs200330818 Rare missense variant in BMP9/GDF2 that impairs processing of the mature BMP9 ligand, reducing ALK1 vascular signaling and predisposing carriers to hereditary hemorrhagic telangiectasia type 5 (HHT5)

Chromosome 10 Risk Allele T Category Vascular Inflammation & Remodeling Tags Cardiovascular, Angiogenesis, Genetic Counseling, Carrier Status, Endothelial Health, Growth Factors

Your blood vessels are not static pipes. They are living structures continuously reshaped by molecular signals — and one of the most important of those signals in the vascular system is BMP9(https://pubmed.ncbi.nlm.nih.gov/23972370/). The GDF2 gene encodes BMP9, and the p.Arg68Leu variant — a single amino acid...

rs2253310 Intronic FOXO3 longevity variant; C allele (minor in East Asians) associated with ~20% lower mortality risk and better cognitive aging in Chinese cohorts; eQTL affecting FOXO3 brain expression

Chromosome 6 Risk Allele G Category Longevity & Aging Tags Longevity, Aging, Oxidative Stress, Inflammation, Cardiovascular, Ovarian Reserve, Menopause

FOXO3 is the most replicated human longevity gene, with protective variants confirmed across European, Asian, and African populations. While the well-characterized rs2802292 G-allele (the HSF1-binding enhancer variant) has been studied primarily in Western and Japanese-American cohorts, rs2253310 captures a distinct...

rs2575876 Intronic ABCA1 variant associated with HDL-C levels under a recessive model; AA homozygotes show measurably different cholesterol efflux capacity and face a heightened risk of adverse outcomes when HDL-C is abnormal

Chromosome 9 Risk Allele A Category Cholesterol & Lipoproteins Tags Fat Metabolism, HDL Cholesterol, Cholesterol, Cardiovascular, Triglycerides

ABCA1| ATP-Binding Cassette Transporter A1 — a large cell-membrane protein that pumps cholesterol and phospholipids out of cells onto lipid-poor apolipoprotein A-I, the initiating step for HDL particle assembly is the rate-limiting controller of reverse cholesterol transport(). When ABCA1 works well, cells shed...

rs2631367 Promoter variant in SLC22A5 (OCTN2) that reduces carnitine transporter expression and forms part of the IBD5 two-locus TC haplotype strongly associated with Crohn's disease susceptibility

Chromosome 5 Risk Allele C Category IBD & Mucosal Immunity Tags IBD, Inflammatory Bowel Disease, Autoimmune, Gut Health, Gut Barrier, Inflammation, Immune & Gut

One of the most studied regions in Crohn's disease genetics sits on chromosome 5q31 — a 250-kilobase stretch called the IBD5 locus(https://pubmed.ncbi.nlm.nih.gov/15107849/). Within this locus, two functional variants in adjacent carnitine transporter genes form a two-allele haplotype that raises Crohn's disease...

rs267606993 Pathogenic start-codon variant in muscle glycogen phosphorylase; homozygous or compound heterozygous carriers develop McArdle disease (glycogen storage disease type V), with exercise intolerance, myoglobinuria, and the second-wind phenomenon

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

Every time you climb stairs, sprint for a bus, or carry groceries, your muscle cells burn through their internal glycogen stores in the first few seconds of exertion. The enzyme responsible for unlocking those stores is myophosphorylase() — and in McArdle disease, it doesn't work. Glycogen accumulates unused inside...

rs279858 GABA-A receptor alpha-2 subunit variant affecting alcohol response, anxiety, and addiction vulnerability

Chromosome 4 Risk Allele C Category Mood & Behavior Tags Mental Health, Alcohol, Anxiety, Substance Use, Neurotransmitters, Addiction

The GABRA2 gene encodes the alpha-2 subunit of the GABA-A receptor, the brain's primary inhibitory neurotransmitter system. The alpha-2 subunit participates in transporting chloride ions into neurons, causing hyperpolarization and inhibitory effects . This subunit is found primarily in the hippocampus and forebrain...

rs340875 Intronic variant in PROX1, the master transcription factor for lymphatic endothelial identity and valve development, associated with increased varicose veins risk through impaired lymphatic-venous drainage

Chromosome 1 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Tags Lymphatic, Cardiovascular, Endothelial Health, Venous Health, Inflammation

Deep beneath the skin, an invisible infrastructure of lymphatic vessels works alongside your veins to return fluid to circulation. The gene PROX1 — prospero homeobox 1(https://pubmed.ncbi.nlm.nih.gov/36439271/) — is the master regulator of lymphatic endothelial cell identity. Without PROX1, lymphatic vessels fail to...

rs35018800 A rare missense variant in the TYK2 pseudokinase (JH2) domain that partially reduces TYK2 catalytic activity by disrupting intradomain regulatory contacts, conferring strong independent protection against rheumatoid arthritis (OR 0.53) and other autoimmune diseases including SLE

Chromosome 19 Risk Allele G Category Autoimmune Tolerance & T-Cell Regulation Tags Autoimmune, JAK-STAT Signaling, Interferon, Inflammation, Rheumatoid Arthritis, Psoriasis

Among the three independent protein-coding protective variants in TYK2, Ala928Val stands apart for the strength of its individual effect. While rs12720356 (Ile684Ser) confers roughly 14% protection per allele and rs34536443 (Pro1104Ala) roughly 24% per allele, the A928V variant confers an odds ratio of...