Research — GeneOps

rs10835638 — FSHB c.-211G>T

Chromosome 11 Risk Allele T Category Fertility & Ovarian Function Fertility, Gonadotropins, Male Fertility, Ovarian Reserve, IVF, Reproductive Health

Promoter variant reducing FSH beta-subunit transcription by ~50%, lowering serum FSH levels and impairing folliculogenesis in females and spermatogenesis in males

rs10841496 — PDE3A

Chromosome 12 Risk Allele A Category Blood Pressure & Hypertension Blood Pressure, Cardiovascular, Hypertension, Nitric Oxide, Heart Disease

5' UTR variant in phosphodiesterase 3A that may alter PDE3A expression, affecting cAMP metabolism in vascular smooth muscle and cardiac tissue

rs10859871 — VEZT

Chromosome 12 Risk Allele C Category Endometriosis & Uterine Health Endometriosis, Fertility, Reproductive Health, Connective Tissue, Women's Health, Inflammation

Intronic variant near the VEZT (vezatin) gene at 12q22 associated with increased endometriosis susceptibility across multiple GWAS meta-analyses; the C allele acts as a cis-eQTL increasing VEZT expression in blood and endometrial tissue, implicating disrupted adherens junction integrity in ectopic endometrial implantation

rs10954213 — IRF5 3'UTR polyadenylation

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

3'UTR variant creating a functional polyadenylation site; A allele produces a shorter, more stable IRF5 mRNA isoform driving higher IRF5 protein levels and autoimmune disease risk

rs11057841 — SCARB1

Chromosome 12 Risk Allele C Category Cholesterol & Lipoproteins Fat Metabolism, Eye Health, Retinal Health, Antioxidants, Beta-Carotene, Cardiovascular

Intronic variant in SCARB1 that tags a haplotype affecting SR-BI receptor-mediated uptake of macular carotenoids (lutein, zeaxanthin) and beta-carotene from HDL particles; T allele carriers show up to 24% higher serum lutein per allele

rs1143627 — IL1B -31T>C

Chromosome 2 Risk Allele A Category TNF, NF-kB & Inflammatory Cytokines Inflammation, Autoimmunity, Gastric Health, Periodontal Disease, Cancer Risk, Immune Response

Promoter variant that elevates IL-1β transcription, increasing risk of H. pylori-driven gastric cancer, chronic periodontitis, and inflammatory tissue damage

rs115532916 — ACAD9 ACAD9 Ala326Pro

Chromosome 3 Risk Allele C Category Metabolic Enzymes & Rare Disorders Mitochondria, Energy Metabolism, B Vitamins, Cardiovascular, Carrier Status, Heart Disease

Pathogenic missense variant in acyl-CoA dehydrogenase family member 9, causing loss of ACAD enzyme activity and impaired mitochondrial complex I assembly; homozygous or compound heterozygous carriers develop ACAD9 deficiency with cardiomyopathy, lactic acidosis, and exercise intolerance; riboflavin-responsive in a subset of patients

rs11556924 — ZC3HC1 R363H

Chromosome 7 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Heart Disease, Atherosclerosis, Blood Pressure, Inflammation

Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363) allele is protective against coronary artery disease (OR 0.90, p=2.4×10⁻¹⁷)

rs11726117 — ALPK1 ALPK1 variant

Chromosome 4 Risk Allele C Category Uric Acid & Kidney Function Uric Acid, Gout, Inflammation, Innate Immunity, Kidney Function, Minerals

Missense variant in the innate immune kinase ALPK1 (Met861Thr); the C allele is associated with elevated gout risk in East Asian populations through altered URAT1-mediated urate homeostasis and NF-κB inflammatory signaling

rs118204017 — ACADVL

Chromosome 17 Risk Allele C Category Liver Fat Fat Metabolism, Mitochondria, Carrier Status, Energy Metabolism, Genetic Counseling, Reproductive Health

ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD deficiency; heterozygous carriers are asymptomatic but important to identify for reproductive counseling