Research — GeneOps

rs4762 — AGT T174M

Chromosome 1 Risk Allele A Category Blood Pressure & Hypertension Cardiovascular, Blood Pressure, Hypertension, Heart Disease, Preeclampsia, Women's Health

Missense variant in angiotensinogen that increases AGT protein levels and raises risk of hypertension, myocardial infarction, and stroke, with stronger effects in Asian populations

rs4762326 — VEZT VEZT Endometriosis Cell Adhesion Variant

Chromosome 12 Risk Allele T Category Endometriosis & Uterine Health Endometriosis, Reproductive Health, Fertility, Extracellular Matrix, Inflammation, Women's Health

Intronic variant in VEZT (vezatin, adherens junction transmembrane protein) on chromosome 12q23.2; the T allele is associated with increased endometriosis risk across multiple large GWAS meta-analyses, with an odds ratio of approximately 1.08 per allele

rs4783961 — CETP

Chromosome 16 Risk Allele A Category Cholesterol & Lipoproteins Fat Metabolism, Cholesterol, HDL Cholesterol, Cardiovascular, Omega-3

CETP promoter variant that raises HDL cholesterol by reducing cholesteryl ester transfer protein activity; A allele carriers show higher HDL-C but mixed cardiovascular outcome evidence.

rs547154 — C2 IVS10

Chromosome 6 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Eye Health, Complement System, Inflammation, Aging, Autoimmune

Intronic C2 variant forming the H7 protective haplotype with CFB R32Q, reducing classical complement activation and cutting AMD risk by roughly half

rs571312 — MC4R MC4R Regulatory Variant (Appetite Signaling)

Chromosome 18 Risk Allele A Category Appetite & Obesity Appetite, Obesity, Metabolic, Diet, Satiety, Leptin

Regulatory variant upstream of MC4R associated with increased caloric intake, elevated BMI, and obesity risk through reduced MC4R satiety signaling

rs61748497 — VWF C1060R

Chromosome 12 Risk Allele G Category Von Willebrand & Anticoagulant Proteins Blood Clotting, Cardiovascular, Carrier Status, Genetic Counseling, Thrombosis, Heart Disease, Thrombophilia

Pathogenic missense in the VWF D3 domain that abolishes factor VIII binding; homozygotes and compound heterozygotes develop type 2N von Willebrand disease, presenting as low FVIII with normal VWF antigen and often misdiagnosed as haemophilia A

rs662799 — APOA5 -1131T>C

Chromosome 11 Risk Allele G Category Atherogenic Lipoproteins Triglycerides, Fat Metabolism, Cardiovascular, Omega-3, Diet

Promoter variant that reduces APOA5 expression, impairing lipoprotein lipase activity and raising triglycerides by 15–36%; major determinant of hypertriglyceridemia and dietary fat response

rs6910071 — TSBP1

Chromosome 6 Risk Allele G Category Interferon Signaling & Systemic Autoimmune HLA, Rheumatoid Arthritis, Autoimmune, Inflammation, MHC Antigen Presentation, Immune & Autoimmune

MHC-region intronic variant tagging HLA-DRB1 shared epitope haplotypes; G allele is the primary GWAS signal for seropositive rheumatoid arthritis and polymyalgia rheumatica risk in Europeans

rs700519 — CYP19A1 Arg264Cys

Chromosome 15 Risk Allele A Category Reproductive Hormones Aromatase, Fertility, Reproductive Health, Estrogen, PCOS, Uterine Fibroids

Coding variant in aromatase that substitutes cysteine for arginine at position 264; in vitro evidence shows increased aromatase activity, with reported associations with PCOS risk and ART pregnancy outcomes in some populations

rs12459419 — CD33 CD33 exon 2 splicing variant

Chromosome 19 Risk Allele C Category Neurology & Cognition Alzheimer's, Neuroinflammation, Neurodegeneration, Brain Health, Cognitive Decline, Immune Function

Coding variant in CD33 (Siglec-3) that alters exon 2 splicing in microglia — the T allele promotes exon 2 skipping, producing a short CD33 isoform that lacks the sialic acid-binding IgV domain and enhances microglial phagocytosis of amyloid-beta, reducing Alzheimer's disease risk