Research — GeneOps

rs1800955 — DRD4 -521C>T

Chromosome 11 Risk Allele C Category Mood & Behavior Cognition, Dopamine, Neurotransmitters, Brain Health, Stress

Promoter variant that modulates dopamine D4 receptor expression in the prefrontal cortex, influencing novelty seeking and cognitive flexibility

rs193922239 — FBN1

Chromosome 15 Risk Allele G Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Connective Tissue, Genetic Counseling, Carrier Status, Extracellular Matrix

Pathogenic missense variant in fibrillin-1 replacing glycine 2627 with arginine in a calcium-binding EGF-like domain, disrupting microfibril assembly and predisposing heterozygous carriers to Marfan syndrome with aortic root dilation, lens dislocation, and skeletal overgrowth.

rs1943226 — MC4R MC4R third tagSNP

Chromosome 18 Risk Allele G Category Appetite & Obesity Appetite, Obesity, Metabolic, Satiety, Fat Distribution, Energy Metabolism

Upstream regulatory tag variant ~3 kb proximal to MC4R, included in MC4R haplotype studies; appears in a large BMI GWAS at p=1×10⁻²⁶ through LD with the MC4R locus, with no independent obesity association established in direct association studies

rs2046210 — ESR1 ESR1 rs2046210

Chromosome 6 Risk Allele A Category Endometriosis & Uterine Health Endometriosis, Estrogen, Estrogen Metabolism, Reproductive Health, Women's Health, Breast Cancer

Promoter-region variant upstream of estrogen receptor alpha (ESR1) at 6q25.1; the A allele increases ESR1 transcription and is associated with elevated endometriosis risk, endometrial cancer susceptibility, and breast cancer risk across multiple populations

rs2066844 — NOD2 R702W

Chromosome 16 Risk Allele T Category IBD & Mucosal Immunity Innate Immunity, Gut Microbiome, Inflammatory Bowel Disease, Ileal Health, Bacterial Sensing, Paneth Cells

Missense variant in the NOD2 gene that increases Crohn's disease risk, particularly ileal disease, by impairing bacterial peptidoglycan recognition

rs2235321 — TMPRSS6 TMPRSS6 synonymous variant (hepcidin modulator)

Chromosome 22 Risk Allele G Category Vitamins & Nutrient Absorption Iron, Micronutrients, Vitamins, Erythropoiesis, Minerals

Synonymous coding variant in TMPRSS6 associated with hepcidin levels and iron status; the G allele tags a haplotype with modestly elevated hepcidin and reduced iron absorption efficiency

rs2293275 — LHCGR Asn312Ser (N312S)

Chromosome 2 Risk Allele T Category Fertility & Ovarian Function Reproductive Health, Hormones, Fertility, PCOS, Pharmacogenomics

Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ovarian response to LH stimulation, PCOS risk, ovarian aging, and IVF outcomes

rs2304256 — TYK2 TYK2 V362F

Chromosome 19 Risk Allele C Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, Interferon, Inflammation, Type 1 Diabetes, Rheumatoid Arthritis, JAK-STAT Signaling, Lupus

A common missense and splicing variant in TYK2 that promotes exon 8 inclusion and mildly enhances TYK2 expression, conferring protection against multiple autoimmune diseases including SLE, rheumatoid arthritis, type 1 diabetes, and psoriasis

rs2413450 — TMPRSS6 TMPRSS6 iron regulation variant

Chromosome 22 Risk Allele T Category Iron & Mineral Transport Iron, Micronutrients, Vitamins, Cardiovascular, Diet

Intronic TMPRSS6 variant associated with lower MCV, MCH, and hemoglobin levels — adds locus-depth coverage of the TMPRSS6 iron-regulation axis beyond the primary Ala736Val missense variant

rs26653 — ERAP1

Chromosome 5 Risk Allele G Category Psoriasis & Spondyloarthropathy Immune System, Autoimmune, MHC Antigen Presentation, Inflammation, Psoriasis, Arthritis

Missense variant (Arg127Pro) in ERAP1 that subtly alters ER peptide trimming kinetics, increasing autoimmune risk for psoriasis and ankylosing spondylitis particularly in individuals carrying HLA-C*06:02 or HLA-B27; association is strongest for disease onset in adolescence