Research — GeneOps

rs1800789 — FGB -249G>A

Chromosome 4 Risk Allele G Category Coagulation & Clotting Factors Blood Clotting, Cardiovascular, Inflammation, Thrombosis, Atherosclerosis, Thrombophilia

Upstream promoter variant in fibrinogen beta chain that is associated with lower circulating fibrinogen and a modestly reduced risk of coronary artery disease and atherosclerosis

rs1867277 — FOXE1 c.-283G>A

Chromosome 9 Risk Allele A Category Cancer Risk Thyroid, Cancer Risk, Hormones & Thyroid, Cancer Screening

Functional 5' UTR variant in the FOXE1 thyroid transcription factor that increases papillary thyroid cancer risk by recruiting USF1/USF2 transcription factors to upregulate FOXE1 expression

rs1990760 — IFIH1 Ala946Thr

Chromosome 2 Risk Allele T Category Interferon Signaling & Systemic Autoimmune Immune & Autoimmune, Type 1 Diabetes, Innate Immunity, Interferon, Inflammation, Vitiligo

Gain-of-function missense variant in the MDA5 viral RNA sensor, enhancing type I interferon production and increasing autoimmune disease risk

rs2004776 — AGT

Chromosome 1 Risk Allele T Category Blood Pressure & Hypertension Blood Pressure, Cardiovascular, Hypertension, Salt Sensitivity, Kidney Function, Heart Disease

Intronic regulatory variant in angiotensinogen intron I that enhances HNF3β transcription factor binding, increases AGT expression, and raises blood pressure by 12–13 mmHg in transgenic models

rs201363394 — SERPING1 Arg400Cys

Chromosome 11 Risk Allele T Category B-Cell Immunity & Antibody-Mediated Disease Complement System, Genetic Counseling, Carrier Status, Inflammation, Autoimmune, Hereditary Angioedema

Pathogenic missense variant in SERPING1 encoding C1-inhibitor; the Arg400Cys substitution disrupts protein folding and causes hereditary angioedema type 1 through C1-INH deficiency — heterozygous carriers develop recurrent angioedema attacks, while the rare homozygous state produces severe HAE with additional complement depletion

rs2282679 — GC

Chromosome 4 Risk Allele G Category Vitamin D Metabolism Vitamin D, Bone Health, Cardiovascular, Diet, Micronutrients, Mineral Metabolism

Intronic GWAS tag variant in the vitamin D binding protein gene, the strongest common genetic determinant of circulating 25-hydroxyvitamin D levels

rs2303428 — MSH2

Chromosome 2 Risk Allele C Category Gamete Quality & DNA Repair Mismatch Repair, DNA Repair, Genomic Stability, Cancer Risk, RNA Splicing, Chemotherapy

Splice-region variant in MSH2 (c.2006-6T>C) located 6 bases upstream of exon 13 in the mismatch repair gene; the C allele is associated with altered mismatch repair expression and modestly elevated cancer prognosis signals across multiple tumour types; classified benign for Lynch syndrome

rs2642438 — MTARC1 p.Ala165Thr (A165T)

Chromosome 1 Risk Allele G Category Liver Fat Liver Health, Fat Metabolism, Cholesterol, Triglycerides, Diet

Protective missense variant that reduces MTARC1 protein stability, cutting hepatic fat accumulation and lowering risk of NAFLD, NASH, and liver-related death

rs28942111 — PCSK9 S127R

Chromosome 1 Risk Allele A Category Atherogenic Lipoproteins Cardiovascular, Cholesterol, LDL Cholesterol, Heart Disease, Atherosclerosis, Statins

Gain-of-function PCSK9 missense variant (Ser127Arg) causing autosomal dominant familial hypercholesterolemia through enhanced LDL receptor degradation; rare but highly penetrant, carriers have severely elevated LDL-C and premature coronary artery disease

rs2911463 — PIEZO1

Chromosome 16 Risk Allele G Category Arrhythmia & Heart Rhythm Cardiovascular, Endothelial Health, Heart Disease, Blood Pressure, Inflammation, Exercise, Venous Health

Intronic variant in PIEZO1, the endothelial mechanosensory ion channel that senses blood flow shear stress; the G allele is associated with elevated varicose vein risk in genome-wide studies of over 800,000 individuals