Research — GeneOps

rs11950646 Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT1) that independently predicts circulating plasma vitamin C levels, with the A allele associated with reduced ascorbate concentrations

Chromosome 5 Risk Allele A Category Vitamins & Nutrient Absorption Tags Vitamin C, Vitamins, Micronutrients, Antioxidants, Diet, Renal Function

Vitamin C is not made by the human body. Every molecule of ascorbate() in your bloodstream arrived via active transport: absorbed in the gut by SVCT1() and then conserved by the kidneys, also by SVCT1, before filtered vitamin C can be lost in urine. rs11950646 sits in an intron of SLC23A1 — not in the protein-coding...

rs12101261 Intronic regulatory variant in TSHR intron 1 that is the primary PLZF repressor-binding site in the open chromatin region controlling thymic TSHR expression; the T allele allows stronger PLZF binding, reduces intrathymic TSHR levels, impairs central immune tolerance to thyroid antigens, and confers susceptibility to Graves' disease

Chromosome 14 Risk Allele T Category Autoimmune Tolerance & T-Cell Regulation Tags Autoimmune, Thyroid, Hormones & Thyroid, Immune & Autoimmune, T-Cell Regulation, Selenium

The thyroid stimulating hormone receptor (TSHR) is the defining autoantigen in Graves' disease — the most common autoimmune cause of hyperthyroidism. In Graves' disease, the immune system generates stimulating autoantibodies (TRAbs) that lock onto TSHR and permanently mimic the pituitary's TSH signal, driving...

rs121434289 Missense variant in ZIP4 zinc transporter causing total loss of intestinal zinc absorption when homozygous; responsible for classical acrodermatitis enteropathica

Chromosome 8 Risk Allele T Category Iron & Mineral Transport Tags Zinc, Micronutrients, Skin Health, Digestive Health, Carrier Status, Congenital

Every cell in your body requires zinc, but none more acutely than the enterocytes lining the duodenum and proximal jejunum. These cells express ZIP4, a protein encoded by SLC39A4 that acts as the primary gateway for dietary zinc absorption. When ZIP4 functions normally, it sits on the apical membrane of gut cells...

rs12188300 Near-gene variant at the IL12B locus associated with psoriasis risk through altered expression of the p40 subunit shared by IL-12 and IL-23 cytokines

Chromosome 5 Risk Allele T Category Psoriasis & Spondyloarthropathy Tags Immune & Gut, Immune & Autoimmune, Inflammation, Inflammatory Bowel Disease, Pharmacogenomics, Psoriasis, Biologic Therapy, Skin

The IL12B gene(https://www.omim.org/entry/161561). IL-12 pairs p40 with the p35 subunit to form the IL-12 heterodimer that drives Th1 differentiation and IFN-γ production. IL-23 pairs the same p40 subunit with the p19 subunit (IL-23A) to form IL-23, which drives Th17 cell expansion and IL-17 production. Both...

rs121909567 Pathogenic missense in antithrombin III; the A allele causes type II heparin-binding-site (HBS) antithrombin deficiency with heterozygotes carrying 3-5x VTE risk and homozygotes facing severe, often childhood-onset thrombophilia

Chromosome 1 Risk Allele A Category Von Willebrand & Anticoagulant Proteins Tags Blood Clotting, Thrombophilia, Blood Thinners, Cardiovascular, Women's Health, Carrier Status

Your blood's coagulation system is a carefully balanced pair of accelerators and brakes. Antithrombin III (AT-III), encoded by SERPINC1, is one of the most powerful brakes in the system — a natural anticoagulant that continuously inhibits thrombin and other activated clotting factors, preventing runaway clot...

rs121965064 Ashkenazi Jewish founder missense mutation in coagulation factor XI causing impaired FXI dimerization; homozygotes develop hemophilia C (severe FXI deficiency) with post-surgical and trauma-related bleeding, while heterozygotes have partial deficiency with variable bleeding risk; the most prevalent FXI deficiency allele in Ashkenazi Jewish populations

Chromosome 4 Risk Allele C Category Coagulation & Clotting Factors Tags Blood Clotting, Cardiovascular, Thrombophilia, Carrier Status, Genetic Counseling, Ancestry-Specific

Coagulation factor XI (FXI) is the amplifier of the clotting cascade — it is not needed to start a clot, but it is essential for stabilizing and propagating one. The F11 Phe301Leu variant (historically called Phe283Leu; also referred to as the Type III Ashkenazi founder mutation) disrupts the architecture of the FXI...

rs12203592 Regulatory variant in IRF4 enhancer affecting melanocyte pigmentation, sun sensitivity, freckling, and melanoma susceptibility

Chromosome 6 Risk Allele T Category Skin & Eyes Tags Skin, Hair & Pigmentation, Sun Sensitivity, Melanoma, Cancer Risk, Freckling

The rs12203592 variant sits in intron 4 of the IRF4 gene on chromosome 6, within a melanocyte-specific enhancer element that regulates IRF4 expression . The T allele is most common in individuals of European descent and is not seen in sub-Saharan Africans or East Asians , making it one of the population-specific...

rs12593008 Intronic LIPC variant in intron 1 associated with low HDL risk, predominantly in women; the C allele is the risk allele for reduced HDL-cholesterol levels

Chromosome 15 Risk Allele C Category Triglycerides & Fatty Acids Tags HDL Cholesterol, Fat Metabolism, Cholesterol, Cardiovascular, Diet

Hepatic lipase (HL), the enzyme encoded by the LIPC gene on chromosome 15q21-22, governs the final stage of lipoprotein particle remodeling in the liver. It hydrolyzes triglycerides and phospholipids from HDL2, converting the large, buoyant particles into smaller, denser HDL3 — the form most capable of capturing...

rs12651246 An intronic variant in HELQ (helicase, POLQ-like) on chromosome 4q21.23; the A allele is associated with delayed age at natural menopause (+0.238 years/allele, p=6×10⁻¹⁷²), reflecting HELQ's role in maintaining the oocyte DNA-repair capacity that preserves ovarian reserve across the reproductive lifespan

Chromosome 4 Risk Allele G Category Gamete Quality & DNA Repair Tags Ovarian Reserve, Fertility, Menopause, DNA Repair, Double-Strand Break Repair, Reproductive Health

Every woman is born with a fixed stock of oocytes — roughly one to two million primordial follicles — and the rate at which they are lost determines when menopause arrives. Much of this attrition is not passive depletion but active quality filtering: oocytes that accumulate unrepaired DNA damage are eliminated via...

rs12785878 Influences vitamin D synthesis by regulating how much 7-dehydrocholesterol is available for conversion to vitamin D3 in the skin

Chromosome 11 Risk Allele G Category Vitamin D Metabolism Tags Vitamin D, Bone Health, Immune System, Cholesterol, Cardiovascular

Your skin makes vitamin D through an elegant two-step process: ultraviolet B light strikes 7-dehydrocholesterol (7-DHC)() in the outer skin layers, breaking open one of its carbon rings to form previtamin D3, which then spontaneously rearranges into vitamin D3 (cholecalciferol). But there is a catch: the same 7-DHC...