Research — GeneOps

rs2178575 — ERBB4 ERBB4/HER4 PCOS Folliculogenesis

Chromosome 2 Risk Allele A Category Fertility & Ovarian Function PCOS, Fertility, Ovarian Reserve, Hormones, Reproductive Health, Growth Factors

An intronic variant in ERBB4 on chromosome 2q34, increasing PCOS susceptibility in European women

rs2201841 — IL23R

Chromosome 1 Risk Allele G Category Psoriasis & Spondyloarthropathy Immune & Gut, Autoimmune, Inflammation, Psoriasis, IBD, Arthritis

Intronic variant in the IL-23 receptor gene associated with increased risk of psoriasis, psoriatic arthritis, Crohn's disease, and ankylosing spondylitis through altered IL-23 signaling and Th17 cell activation

rs2234714 — ABCG1 ABCG1 promoter variant

Chromosome 21 Risk Allele G Category Cholesterol & Lipoproteins Cholesterol, Cardiovascular, Lipid Metabolism, HDL Cholesterol, Atherosclerosis, Macrophage

Intronic ABCG1 variant near the promoter region; homozygous carriers of the minor A allele showed a 36% lower odds of coronary artery disease in a Chinese Han cohort, suggesting a modest protective effect linked to the ABCG1 cholesterol efflux locus.

rs2251780 — GSR

Chromosome 8 Risk Allele A Category Vitamins & Nutrient Absorption Antioxidants, Oxidative Stress, B Vitamins, Glutathione, Hearing Loss, Sensorineural, Glutathione Cycle, NRF2 Target

Intronic variant in the glutathione reductase gene affecting antioxidant defense; the minor A allele has been associated with poorer recovery after sudden sensorineural hearing loss treated with corticosteroids, consistent with impaired cochlear oxidative stress clearance

rs2270915 — NPR3 N521D

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

Missense variant in NPR3 clearance receptor disrupting Gi protein coupling, independently associated with diastolic dysfunction (OR 1.94) and reduced salt-sensitivity of blood pressure

rs2280714 — IRF5 3'UTR

Chromosome 7 Risk Allele T Category Interferon Signaling & Systemic Autoimmune Immune & Autoimmune, Interferon, Lupus, Connective Tissue, Autoimmune, Inflammation

Downstream regulatory variant in the IRF5 3' region that elevates IRF5 mRNA expression and marks the risk haplotype block associated with lupus, systemic sclerosis, and Sjögren syndrome

rs228921 — TMPRSS6 TMPRSS6 iron regulation variant

Chromosome 22 Risk Allele G Category Iron & Mineral Transport Iron, Erythropoiesis, Micronutrients, Cardiovascular, Women's Health

Upstream regulatory variant near TMPRSS6 that independently lowers hemoglobin and iron status via the hepcidin axis, operating in a separate haplotype block from the well-characterized Ala736Val variant

rs2414095 — CYP19A1

Chromosome 15 Risk Allele A Category Reproductive Hormones Aromatase, Estrogen, Male Fertility, Fertility, Reproductive Health, Steroid Hormones

Intronic variant in the aromatase gene associated with lower circulating estradiol and higher FSH levels; the A allele reduces aromatase activity and has been linked to higher sperm counts in men and lower bone mineral density

rs267607353 — VWF S1783A

Chromosome 12 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Cardiovascular, Blood Clotting, Genetic Counseling, Carrier Status, Thrombophilia

Rare pathogenic missense variant in the VWF A3 collagen-binding domain causing isolated collagen-binding deficiency (type 2M/2CB von Willebrand disease) with normal multimers but impaired platelet adhesion to subendothelial collagen

rs2736340 — BLK

Chromosome 8 Risk Allele T Category B-Cell Immunity & Antibody-Mediated Disease Autoimmune, Lupus, Immune System, Immune & Autoimmune, B-Cell Signaling, Rheumatoid Arthritis

FAM167A-BLK region regulatory variant that reduces B-lymphoid tyrosine kinase expression and confers risk for the broadest autoimmune disease spectrum of any BLK locus SNP, including SLE, RA, SSc, primary Sjögren's syndrome, APS, myositis, and Kawasaki disease