Research — GeneOps

rs3890745 — MMEL1 MMEL1 rs3890745

Chromosome 1 Risk Allele C Category TNF, NF-kB & Inflammatory Cytokines Rheumatoid Arthritis, Autoimmune, Immune & Autoimmune, T-Cell Regulation, B-Cell Signaling, Inflammation

Intronic variant near MMEL1 and TNFRSF14 on chromosome 1p36; the C allele is associated with increased susceptibility to rheumatoid arthritis and other autoimmune conditions through disrupted immune costimulatory signaling at the HVEM/LIGHT/BTLA axis

rs396991 — FCGR3A V158F

Chromosome 1 Risk Allele C Category Innate Immunity & Infection Defense Immune & Gut, Pharmacogenomics, Innate Immunity, Autoimmune, Cancer Treatment, Drug Response

Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell IgG binding affinity and antibody-dependent cellular cytotoxicity — major pharmacogenomic factor for monoclonal antibody therapy response

rs397507173 — BTD

Chromosome 3 Risk Allele T Category Vitamins & Nutrient Absorption B Vitamins, Micronutrients, Carrier Status, Metabolic, Neurological Risk, Vitamins

Rare missense variant in the biotinidase enzyme (p.Pro167Ser); a likely pathogenic allele for biotinidase deficiency. Heterozygous carriers have reduced but usually sufficient biotinidase activity; compound heterozygosity with other BTD pathogenic variants can cause partial or profound deficiency requiring lifelong biotin supplementation.

rs397514752 — MYBPC3 Gly490Val

Chromosome 11 Risk Allele A Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Genetic Counseling, Carrier Status, Congenital

Ultra-rare autosomal recessive MYBPC3 missense variant; homozygotes develop severe HCM while heterozygous carriers remain clinically unaffected up to age 71 in the single reported family

rs4072037 — MUC1

Chromosome 1 Risk Allele T Category IBD & Mucosal Immunity H. pylori, Gut Microbiome, Digestive Health, Gastric Health

Mucin-1 gene variant affecting gastric mucus barrier function and H. pylori colonization resistance

rs509035 — GHSR GHSR Metabolic Syndrome Variant

Chromosome 3 Risk Allele A Category Appetite & Obesity Appetite, Obesity, Metabolic Health, Hormones, Fat Metabolism, Insulin

Intronic variant in the ghrelin receptor gene; the A allele is associated with higher fat-free mass, greater stature, and elevated serum IGF-1, reflecting enhanced GHSR-driven growth hormone pulsatility and its downstream anabolic effects on body composition

rs547025 — SIRT3

Chromosome 11 Risk Allele T Category Endometriosis & Uterine Health Uterine Fibroids, Fertility, Reproductive Health, Oxidative Stress, Women's Health, Mitochondria

Intronic variant in SIRT3 (the principal mitochondrial deacetylase) associated with uterine fibroid risk; the common T allele is linked to modestly higher fibroid susceptibility while the rarer C allele appears protective, likely through effects on SIRT3 expression and mitochondrial oxidative-stress defence in uterine smooth muscle

rs559406 — PTPN2

Chromosome 18 Risk Allele G Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, T-Cell Regulation, Inflammation, Immune & Autoimmune, Psoriasis, JAK-STAT Signaling

Intronic PTPN2 variant whose G allele reduces T-cell protein tyrosine phosphatase (TC-PTP) activity, amplifying JAK-STAT signaling and conferring susceptibility to psoriasis and related autoimmune conditions

rs610604 — TNFAIP3

Chromosome 6 Risk Allele G Category Psoriasis & Spondyloarthropathy Autoimmune, Inflammation, Psoriasis, Anti-TNF Biologics, Immune & Gut, Skin

Intronic variant in TNFAIP3 whose G allele is the primary psoriasis susceptibility signal at 6q23.3, tagging a regulatory haplotype distinct from the rheumatoid arthritis and lupus signals at the same locus, and predicting better response to TNF inhibitor therapy

rs72553883 — TNFRSF13B A181E

Chromosome 17 Risk Allele T Category B-Cell Immunity & Antibody-Mediated Disease B-Cell Signaling, Autoimmune, Immune Function, Infection Risk, Immune Response, Carrier Status, Innate Immunity, Immune System

Transmembrane domain missense variant in TACI that abolishes NF-κB signaling, impairing B-cell class switching and antibody production; associated with common variable immunodeficiency and selective IgA deficiency