Research — GeneOps

rs41276738 Missense variant in the VWF D' domain that abolishes high-affinity Factor VIII binding, causing type 2N (Normandy) von Willebrand disease — a recessively-expressed bleeding disorder mimicking mild hemophilia A

Chromosome 12 Risk Allele T Category Von Willebrand & Anticoagulant Proteins Tags Blood Clotting, Cardiovascular, Carrier Status, Genetic Counseling, Thrombophilia, Fibrinolysis

Von Willebrand factor (VWF) does two things in hemostasis: it plugs gaps in damaged vessel walls by tethering platelets to collagen, and it acts as a carrier protein for coagulation Factor VIII(https://pubmed.ncbi.nlm.nih.gov/19088379/). The rs41276738 variant disrupts this second role: the scaffold is structurally...

rs4762326 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

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

Endometriosis affects an estimated 10% of women of reproductive age, yet on average it takes 4–11 years from first symptoms to confirmed diagnosis(https://pubmed.ncbi.nlm.nih.gov/21151130/). Among the mechanisms proposed to explain why displaced endometrial cells survive and implant outside the uterus, cell adhesion...

rs4944653 An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chromosome 11q14.2; the G allele is associated with higher serum FSH levels in a dose-responsive pattern (AA 9.0, AG 9.5, GG 10.7 IU/L) and with PCOS susceptibility, reflecting PRSS23's role in granulosa cell survival and follicular atresia

Chromosome 11 Risk Allele G Category Fertility & Ovarian Function Tags PCOS, Ovarian Reserve, Fertility, Gonadotropins, Hormones, Reproductive Health

Every menstrual cycle, hundreds of follicles begin to grow but only one (occasionally two) is selected to ovulate. The rest undergo programmed destruction — a process called follicular atresia(https://pubmed.ncbi.nlm.nih.gov/18566130/) — and the rate at which this culling occurs determines how rapidly the ovarian...

rs5068 3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic peptide levels and conferring cardioprotection against hypertension and metabolic syndrome

Chromosome 1 Risk Allele G Category Blood Pressure & Hypertension Tags Cardiovascular, Blood Pressure, Hypertension, Metabolic Syndrome, Insulin, Nitric Oxide

The heart is not only a pump — it's an endocrine organ that actively regulates blood pressure. When the atria stretch under elevated pressure, cardiac cells release atrial natriuretic peptide (ANP)(https://pubmed.ncbi.nlm.nih.gov/19219041/). ANP is the body's built-in counter-regulatory brake against hypertension....

rs547154 Intronic C2 variant forming the H7 protective haplotype with CFB R32Q, reducing classical complement activation and cutting AMD risk by roughly half

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

The C2 gene encodes complement component 2, a serine protease that is indispensable for activating the classical complement pathway(https://pubmed.ncbi.nlm.nih.gov/16518403/). rs547154, also called IVS10 (intron variant 10), sits in an intron — a non-coding stretch of DNA that is spliced out before the protein is...

rs6162 Synonymous coding variant in CYP17A1 that tags a haplotype linked to altered DHEA-S levels and steroid production; associated with prostate cancer progression and castration-resistant prostate cancer risk

Chromosome 10 Risk Allele A Category Reproductive Hormones Tags Steroid Hormones, Steroid Metabolism, Testosterone, Reproductive Health, Cortisol, Cancer Risk

CYP17A1(https://www.ncbi.nlm.nih.gov/gene/1586) sits at one of the most critical branch points in human steroid biosynthesis. The enzyme converts pregnenolone and progesterone to 17-hydroxy intermediates (generating cortisol precursors) and catalyzes the subsequent lyase reaction that produces DHEA and...

rs61816761 Nonsense variant eliminating filaggrin protein, the major genetic risk factor for atopic dermatitis and the atopic march from eczema to asthma and food allergy

Chromosome 1 Risk Allele A Category Skin & Eyes Tags Skin Health, Immune & Gut, Inflammation, Food Sensitivity, Asthma, Immune System

Your skin is not just packaging — it is an active immune organ, and at its center sits filaggrin. The FLG gene encodes profilaggrin(https://pubmed.ncbi.nlm.nih.gov/16550169/), the protein responsible for aggregating keratin filaments into the dense, waterproof matrix of the outermost skin layer (stratum corneum)....

rs6742078 Intronic variant in the UGT1A gene cluster (chromosome 2q37) strongly associated with serum bilirubin levels; the T allele reduces glucuronidation capacity, causing mild hyperbilirubinemia and a dose-dependent increase in pigment gallstone risk

Chromosome 2 Risk Allele T Category Uric Acid & Kidney Function Tags Bilirubin, Liver Health, Gallstones, Drug Metabolism, Metabolism, Cardiovascular

Every red blood cell that reaches the end of its 120-day lifespan releases haemoglobin, which breaks down into biliverdin and then bilirubin(https://pubmed.ncbi.nlm.nih.gov/19414484/). The UGT1A gene cluster on chromosome 2q37 encodes nine UDP-glucuronosyltransferase enzymes — UGT1A1 through UGT1A10 — all sharing...

rs688 Synonymous LDLR variant that disrupts exon 12 splicing, reduces LDL receptor surface expression by ~22%, and raises LDL cholesterol — particularly in pre-menopausal women

Chromosome 19 Risk Allele T Category Atherogenic Lipoproteins Tags Cardiovascular, Cholesterol, LDL Cholesterol, Lipid Metabolism, Statins, Heart Disease

The LDL receptor (LDLR) is the liver's primary tool for clearing low-density lipoprotein(https://pubmed.ncbi.nlm.nih.gov/17517690/) from the bloodstream. Mutations that disrupt LDLR function are the cause of familial hypercholesterolemia, one of the most common and dangerous inherited cardiovascular conditions. But...

rs7454108 Tag SNP identifying HLA-DQ8 haplotype, second strongest genetic risk factor for celiac disease and major type 1 diabetes risk marker

Chromosome 6 Risk Allele C Category Interferon Signaling & Systemic Autoimmune Tags Immune & Autoimmune, Celiac Disease, Type 1 Diabetes, Gluten Sensitivity, HLA Typing

rs7454108 is a tag SNP(https://pubmed.ncbi.nlm.nih.gov/18509540/) that identifies the HLA-DQ8 haplotype with extraordinary precision. Located in the intergenic region(https://www.ncbi.nlm.nih.gov/snp/rs7454108) between HLA-DQB1 and HLA-DQA2 on chromosome 6, this SNP's C allele serves as a genetic "flag" for the...