Research — GeneOps

rs104894085 — STAR Q258X (c.772C>T)

Chromosome 8 Risk Allele A Category Reproductive Hormones Reproductive Health, Hormones, Steroid Hormones, Steroid Metabolism, Cortisol, Congenital

Nonsense mutation in STAR that abolishes steroidogenic acute regulatory protein function; the most prevalent allele causing lipoid congenital adrenal hyperplasia, accounting for approximately 70% of cases globally — homozygotes have near-complete loss of all steroid hormone synthesis

rs10499194 — TNFAIP3

Chromosome 6 Risk Allele C Category TNF, NF-kB & Inflammatory Cytokines Autoimmune, Inflammation, Rheumatoid Arthritis, Immune & Gut, Lupus, Anti-TNF Biologics

Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protective against rheumatoid arthritis in Europeans, representing the second independent RA signal at this locus alongside risk variant rs6920220

rs10509679 — CYP2C9

Chromosome 10 Risk Allele A Category Coronary Artery Disease & Atherosclerosis Cerebrovascular, Cardiovascular, Pharmacogenomics, Inflammation, Drug Metabolism

Intronic CYP2C9 haplotype tag associated with increased ischemic stroke risk in Asian populations, acting through altered epoxyeicosatrienoic acid (EET) production and impaired cerebrovascular tone regulation

rs10516487 — BANK1 R61H

Chromosome 4 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Autoimmune, Lupus, Immune System, Immune & Gut, Gut Microbiome, B-Cell Signaling

BANK1 scaffold protein missense variant that shifts B-cell receptor signaling toward hyperactivation, increasing risk for systemic lupus erythematosus and other B-cell-driven autoimmune diseases

rs10745742 — AMDHD1

Chromosome 12 Risk Allele C Category Metabolic Enzymes & Rare Disorders Vitamin D, Micronutrients, Metabolism, Bone Health, Immune Function

Intronic variant in the histidine-catabolism gene AMDHD1 that influences circulating 25-hydroxyvitamin D levels through a pathway outside classical vitamin D metabolism

rs10766197 — CYP2R1

Chromosome 11 Risk Allele A Category Vitamin D Metabolism Vitamin D, Micronutrients, Bone Health, Immune Function, Cardiovascular

Reduces CYP2R1 promoter activity and hepatic 25-hydroxylase expression, lowering circulating 25(OH)D independently of rs10741657

rs1079128 — SLC2A9

Chromosome 4 Risk Allele T Category Uric Acid & Kidney Function Gout, Uric Acid, Kidney Function, Diet, Cardiovascular

Deeply intronic SLC2A9 variant at chromosome 4:9,949,597 (GRCh38) within the GLUT9 renal urate transporter locus; the T allele (GRCh38 reference) is common in East Asian populations (~92%) where gout prevalence is highest, while the C allele (~71% in Africans) tags a haplotype associated with more efficient renal urate clearance and lower serum uric acid setpoint

rs11072566 — NRG4 NRG4 Variant

Chromosome 15 Risk Allele G Category Liver Fat Fat Metabolism, Triglycerides, Insulin, Cardiovascular, Diet

Common intronic variant at the NRG4 locus; NRG4 is a brown adipose tissue-enriched batokine that suppresses hepatic de novo lipogenesis via ErbB4/STAT5/SREBP-1c signaling; lower NRG4 expression is associated with hepatic steatosis, metabolic syndrome, and impaired lipid metabolism

rs11277 — SLC30A1 ZnT1 variant

Chromosome 1 Risk Allele G Category Iron & Mineral Transport Zinc, Minerals, Micronutrients, Immune Function, Metal Metabolism

3'UTR regulatory variant in the primary intestinal zinc efflux transporter, with potential impact on ZnT1 expression and systemic zinc status

rs11571833 — BRCA2 K3326X

Chromosome 13 Risk Allele T Category Cancer Risk Cancer Risk, BRCA, DNA Repair, Cancer Screening, Breast Cancer

Moderate-penetrance stop-gain variant truncating the last 93 amino acids of BRCA2, associated with modestly increased risk of breast, ovarian, and lung cancers — distinct from pathogenic BRCA2 mutations