Research — GeneOps

rs3760775 — FUT6

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

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

rs3774937 — NFKB1 NFKB1 promoter/regulatory variant

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

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

rs41298997 — IKBKE

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

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

rs476828 — MC4R MC4R-region BMI variant

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

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

rs4806660 — TMEM150B

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

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.

rs5186 — AGTR1 A1166C

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

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

rs55687265 — ATP8B4 ATP8B4 Phospholipid Flippase F436L

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

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

rs6165 — FSHR Ala307Thr (T307A)

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

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

rs61748497 — VWF C1060R

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

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

rs6259 — SHBG Asp356Asn

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

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.