Research — GeneOps

rs6841581 — EDNRA

Chromosome 4 Risk Allele A Category Blood Pressure & Hypertension Cerebrovascular, Cardiovascular, Blood Pressure, Endothelial Health, Angiogenesis, Brain Health

Regulatory variant upstream of the endothelin receptor type A gene that reduces EDNRA transcription, impairing endothelin-1-mediated vasoconstriction and increasing susceptibility to intracranial aneurysm

rs7151526 — SERPINA1

Chromosome 14 Risk Allele A Category B-Cell Immunity & Antibody-Mediated Disease Protease Inhibitor, Autoimmune, Inflammation, Kidney Disease, Lung Health

Regulatory variant downstream of SERPINA1 associated with increased susceptibility to ANCA-associated vasculitis (GPA/MPA) and higher mortality in AAV patients

rs72551348 — UGT1A1 Q331R

Chromosome 2 Risk Allele G Category Uric Acid & Kidney Function Bilirubin, Liver Health, Pharmacogenomics, Drug Metabolism, Carrier Status, Congenital

Rare pathogenic missense variant in the UGT1A1 gene that severely reduces bilirubin glucuronidation; homozygotes develop Crigler-Najjar syndrome type II with persistent unconjugated hyperbilirubinemia that responds to phenobarbital treatment

rs727428 — SHBG SHBG +1091 C>T

Chromosome 17 Risk Allele T Category Reproductive Hormones Steroid Hormones, Hormones, Testosterone, PCOS, Fertility, Metabolic Syndrome

Regulatory variant 1 kb downstream of the SHBG gene that reduces sex hormone-binding globulin levels; the T allele lowers SHBG by ~10–20%, increasing free testosterone and free estradiol bioavailability and elevating risk for PCOS and androgen-driven metabolic dysfunction.

rs730882105 — LDLR p.Val524Met

Chromosome 19 Risk Allele A Category Atherogenic Lipoproteins Cholesterol, LDL Cholesterol, Cardiovascular, Atherosclerosis, Heart Disease, Statins

Rare LDLR missense variant (c.1570G>A, p.Val524Met) associated with familial hypercholesterolemia; classified as likely pathogenic by the British Heart Foundation LDLR-LOVD registry

rs9268839 — HLA-DRA

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

Intergenic tag SNP upstream of HLA-DRA; the G allele is the primary GWAS signal for rheumatoid arthritis susceptibility in the HLA class II region, with among the strongest effect sizes of any common RA variant (OR ~2.47 in Europeans).

rs13424006 — IL1RL1

Chromosome 2 Risk Allele T Category Allergy & Atopic Disease Asthma, Inflammation, Immune System, Lung Health, Immune & Autoimmune

Intronic IL1RL1 variant in the 10th intron of the ST2 receptor gene; C allele is protective against late-onset wheeze and eosinophilic airway inflammation, reducing risk by approximately 26% per C allele copy in European birth cohorts

rs1562444 — MTNR1B MTNR1B 3'UTR Melatonin Signaling Variant

Chromosome 11 Risk Allele G Category Blood Sugar & Diabetes Melatonin, Circadian, Diabetes, Insulin, Metabolic Health, Sleep

Regulatory 3'UTR variant in the melatonin receptor 1B gene that affects MTNR1B expression levels and plasma melatonin dynamics, modulating the circadian suppression of pancreatic insulin secretion and metabolic health

rs157582 — TOMM40 TOMM40 memory variant

Chromosome 19 Risk Allele T Category Neurology & Cognition Alzheimer's, Memory, Cognitive Decline, Mitochondria, Neurodegeneration, Aging

Intronic variant in TOMM40 (translocase of outer mitochondrial membrane 40) associated with aging-related verbal memory decline, accelerated hippocampal atrophy, and Alzheimer's disease risk, with effects partially independent of APOE

rs162049 — MTRR

Chromosome 5 Risk Allele G Category Methylation & Detox Methylation, B Vitamins, Homocysteine, Folate

Intronic MTRR variant associated with reduced enzyme expression and impaired B12-dependent homocysteine remethylation