Research — GeneOps

rs4728142 — IRF5 Promoter Indel Tag (CGGGG insertion)

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

Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromatin looping to the IRF5 alternative promoter, driving overexpression of IRF5-short transcripts and increasing risk for lupus, Sjögren's syndrome, inflammatory bowel disease, and other autoimmune conditions; the leading causal candidate for the 5' IRF5 risk signal and a tag for the CGGGG promoter insertion that creates an extra Sp1 binding site

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

rs4820268 — TMPRSS6 TMPRSS6 D512E

Chromosome 22 Risk Allele A Category Iron & Mineral Transport Iron, Micronutrients, Cardiovascular, Diet, Vitamins

TMPRSS6 missense variant affecting matriptase-2 activity; A allele (Asp512Glu) raises hepcidin and lowers iron absorption, particularly affecting iron status in menstruating women and those with marginal intake

rs5925 — LDLR LDLR Expression Co-variant

Chromosome 19 Risk Allele C Category Atherogenic Lipoproteins Cardiovascular, Cholesterol, LDL Cholesterol, Statins, Pharmacogenomics

Synonymous variant in LDLR exon 13 that modulates mRNA splicing efficiency in concert with rs688, influencing LDL receptor levels and LDL-cholesterol concentrations

rs6048 — F9 Factor IX Malmö

Chromosome X Risk Allele A Category Coagulation & Clotting Factors Blood Clotting, Cardiovascular, Thrombosis, Thrombophilia, Heart Disease

Common missense variant in the X-linked coagulation factor IX gene; the G allele is modestly protective against deep vein thrombosis, though its biological mechanism remains incompletely understood

rs6834314 — HSD17B13

Chromosome 4 Risk Allele A Category Liver Fat Liver Health, Fat Metabolism, Liver Disease, Inflammation, Alcohol

Intergenic tag SNP in near-perfect linkage disequilibrium with the HSD17B13 splice variant (rs72613567); the G allele tags HSD17B13 loss-of-function and is associated with reduced risk of NAFLD, NASH, cirrhosis, and lower liver enzymes — effects entirely attributable to LD rather than independent function

rs7944926 — DHCR7

Chromosome 11 Risk Allele A Category Vitamin D Metabolism Vitamin D, Bone Health, Immune System, Cholesterol, Cardiovascular

Near-gene intronic variant in the DHCR7/NADSYN1 locus on chromosome 11 that tags lower circulating vitamin D3 synthesis capacity; a near-perfect proxy for the canonical vitamin D synthesis SNP rs12785878

rs853854 — MAPRE1 MAPRE1/EB1 Spindle Stability

Chromosome 20 Risk Allele T Category Gamete Quality & DNA Repair PCOS, Fertility, Reproductive Health, Ovarian Reserve, IVF, Women's Health

An intronic PCOS susceptibility variant in MAPRE1 (chromosome 20q11.21) identified in the Day 2018 European GWAS meta-analysis; the T allele tags a haplotype associated with altered MAPRE1 expression, with mechanistic links to spindle instability and chromosome missegregation during oocyte meiosis

rs11683424 — DNMT3A

Chromosome 2 Risk Allele T Category Methylation & Detox Methylation, Methylation & Detox, Stress Response, B Vitamins, Inflammation

Intronic variant in the de novo DNA methyltransferase DNMT3A, associated with altered stress-response methylation patterns and immune cell ratios

rs12255372 — TCF7L2

Chromosome 10 Risk Allele T Category Blood Sugar & Diabetes Diabetes, Insulin, Fat Metabolism, Diet

Second TCF7L2 diabetes variant - compounds risk with rs7903146