Research — GeneOps

rs3760775 Near-gene regulatory variant near FUT6 that reduces fucosyltransferase expression and lowers circulating vitamin B12 — especially common in Indians

Chromosome 19 Risk Allele G Category Vitamins & Nutrient Absorption Tags B Vitamins, Folate, Homocysteine, Diet

Vitamin B12 is essential for DNA synthesis, myelin formation, and one-carbon metabolism, yet a striking proportion of Indians — estimated at 47–70% of adults — have clinically low circulating B12 levels even when their diets are not severely restricted. Part of this disparity has a genetic explanation: a regulatory...

rs3774937 Intronic NFKB1 variant with genome-wide significant associations with ulcerative colitis and pleiotropic chronic inflammatory diseases; C allele increases susceptibility across multiple immune-mediated conditions

Chromosome 4 Risk Allele C Category Innate Immunity & Infection Defense Tags Innate Immunity, Immune System, Inflammation, Autoimmune, Inflammatory Bowel Disease, Infectious Disease

Nuclear factor kappa B (NF-κB) is the master transcription factor of the human inflammatory response. Every time your immune cells detect a pathogen, sense tissue damage, or respond to cytokine signals, NF-κB activates within minutes — switching on hundreds of target genes for cytokines, chemokines, adhesion...

rs41298997 Intronic variant in IKBKE (IKK-epsilon) associated with psoriasis susceptibility; the T allele modestly increases risk by influencing the dual NF-kB/type I interferon signaling node encoded by this kinase

Chromosome 1 Risk Allele T Category Psoriasis & Spondyloarthropathy Tags Psoriasis, Autoimmune, Inflammation, Innate Immunity, Interferon, Immune Response

Psoriasis is not a single disease driven by a single pathway — it is the collision of two inflammatory cascades: the NF-kB signaling axis(https://pubmed.ncbi.nlm.nih.gov/28537254/) and the type I interferon axis(https://pubmed.ncbi.nlm.nih.gov/12692549/). The gene IKBKE encodes IKK-epsilon...

rs476828 Intergenic variant in the MC4R regulatory haplotype block, tagging the same appetite-suppression pathway as rs17782313 and associated with increased BMI, fat mass, and obesity risk

Chromosome 18 Risk Allele C Category Appetite & Obesity Tags Appetite, Obesity, Metabolic, Fat Distribution, Satiety, Insulin Resistance

The melanocortin-4 receptor (MC4R) gene sits at the center of your brain's appetite control system. Located in the hypothalamus(), MC4R receives signals from leptin and melanocortin hormones to generate "stop eating" commands. The stretch of chromosome 18 roughly 188 kilobases downstream of MC4R contains a...

rs4806660 Intronic variant in TMEM150B (19q13.42) associated with age at natural menopause and early menopause risk; the C allele may contribute to earlier follicular depletion, while the T allele has been linked to higher oocyte yield during controlled ovarian stimulation.

Chromosome 19 Risk Allele C Category Endometriosis & Uterine Health Tags Ovarian Reserve, Fertility, Reproductive Health, Menopause

On chromosome 19 at band q13.42, within a dense cluster of reproductive-aging loci, lies a variant that has drawn attention for its unexpectedly large effect on early menopause risk. The rs4806660 SNP falls within the gene TMEM150B — also known as DRAM3 (Damage-Regulated Autophagy Modulator 3) — a transmembrane...

rs5186 3' UTR variant in angiotensin II type 1 receptor affecting blood pressure regulation and ARB drug response

Chromosome 3 Risk Allele C Category Blood Pressure & Hypertension Tags Cardiovascular, Drug Metabolism, Blood Thinners, Hypertension, Blood Pressure, Salt Sensitivity

The AGTR1 gene(https://omim.org/entry/106165) that regulates blood pressure, fluid balance, and cardiovascular function. The A1166C variant (rs5186) is the most well-studied AGTR1 SNP, located in the 3′ untranslated region . While it doesn't change the protein sequence directly, it may affect mRNA stability and...

rs55687265 Missense variant in ATP8B4 converting phenylalanine to leucine at position 436, associated with systemic sclerosis risk and linked to Alzheimer's disease susceptibility through disrupted phospholipid flipping in immune and neural cell membranes

Chromosome 15 Risk Allele C Category B-Cell Immunity & Antibody-Mediated Disease Tags Autoimmune, Immune & Autoimmune, Inflammation, Connective Tissue, Neurodegeneration

Your immune cells depend on a precisely organized cell membrane to function. The outer leaflet of every immune cell membrane is kept nearly free of phosphatidylserine — a lipid that, when exposed on the surface, signals "eat me" to phagocytes and dampens T-cell activation. A family of proteins called P4-ATPases...

rs6165 Missense variant in the extracellular domain of the FSH receptor that removes an O-linked glycosylation site, altering FSH binding affinity; nearly completely co-inherited with rs6166 (Asn680Ser) and associated with poor ovarian response in IVF and PCOS susceptibility

Chromosome 2 Risk Allele C Category Fertility & Ovarian Function Tags Fertility, Reproductive Health, IVF, Gonadotropins, Ovarian Reserve, Hormones

LD Redundancy Flag IMPORTANT NOTE FOR REVIEW: rs6165 (Ala307Thr) and rs6166 (Asn680Ser) are in near-complete linkage disequilibrium. Published studies report D'=0.997 and r²=0.82–0.99 across populations(https://pubmed.ncbi.nlm.nih.gov/40673166/). The two variants form a fixed haplotype in most populations:...

rs61748497 Pathogenic missense in the VWF D3 domain that abolishes factor VIII binding; homozygotes and compound heterozygotes develop type 2N von Willebrand disease, presenting as low FVIII with normal VWF antigen and often misdiagnosed as haemophilia A

Chromosome 12 Risk Allele G Category Von Willebrand & Anticoagulant Proteins Tags Blood Clotting, Cardiovascular, Carrier Status, Genetic Counseling, Thrombosis, Heart Disease, Thrombophilia

Von Willebrand factor (VWF) does two jobs in haemostasis: it captures platelets at sites of vascular injury, and it acts as a molecular chaperone that binds and shields coagulation factor VIII(https://pubmed.ncbi.nlm.nih.gov/12588349/) from premature proteolytic clearance. The rs61748497 variant — encoding the...

rs6259 Missense variant in SHBG exon 8 (p.Asp356Asn, historically Asp327Asn in mature-protein numbering) that adds an N-linked glycosylation site to the C-terminal domain, increasing SHBG serum half-life and circulating SHBG levels; the A allele is associated with higher total SHBG, lower free-androgen index, and a protective effect against PCOS and metabolic syndrome, but with worse prostate cancer outcomes during androgen deprivation therapy.

Chromosome 17 Risk Allele A Category Reproductive Hormones Tags Steroid Hormones, Hormones, Testosterone, PCOS, Fertility, Metabolic

Sex hormone-binding globulin is the liver's principal carrier for testosterone and estradiol. Only a tiny fraction of circulating testosterone — roughly 1–3% — is truly free and biologically active; SHBG tightly binds the rest, holding it in reserve. Rs6259 changes one amino acid deep in SHBG's C-terminal domain,...