Research — GeneOps

rs143383 — GDF5 C/T

Chromosome 20 Risk Allele A Category Fitness & Body Bone & Joint, Cartilage, Inflammation, Aging, Back Pain

Regulatory variant in GDF5 affecting cartilage development and osteoarthritis risk in knees, hips, and spine

rs1537377 — CDKN2BAS CDKN2B-AS1 rs1537377

Chromosome 9 Risk Allele C Category Endometriosis & Uterine Health Endometriosis, Fertility, Women's Health, Cancer Risk, Tumor Suppressor, Inflammation

Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus; the C allele independently increases endometriosis susceptibility, with stronger effects in moderate-to-severe disease stages

rs16944 — IL1B -511C>T

Chromosome 2 Risk Allele A Category Vascular Inflammation & Remodeling Inflammation, Cardiovascular, Sepsis, Atherosclerosis, Immune Response

Promoter variant affecting IL-1 beta production, influencing inflammatory response and cardiovascular disease risk

rs16969968 — CHRNA5 Asp398Asn

Chromosome 15 Risk Allele A Category Mood & Behavior Mental Health, Addiction, Smoking, Lung Cancer, Neurotransmitters

Nicotinic receptor variant strongly associated with heavy smoking, nicotine dependence, and increased lung cancer risk

rs174541 — FADS1 FADS1 C>G (delta-5 desaturase depth)

Chromosome 11 Risk Allele C Category Triglycerides & Fatty Acids Omega-3, Fat Metabolism, Triglycerides, Cardiovascular, Diet

Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expression and activity, impairing conversion of dietary omega-6 and omega-3 precursors to arachidonic acid and EPA respectively; independently associated with plasma triglyceride levels and omega-3/omega-6 fatty acid ratios.

rs1746048 — CXCL12

Chromosome 10 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Atherosclerosis, Heart Disease, Inflammation, Angiogenesis

Regulatory variant 80 kb downstream of CXCL12 on chromosome 10q11; the T allele reduces circulating CXCL12 chemokine levels and confers protection against coronary artery disease

rs1800544 — ADRA2A ADRA2A Promoter -1291C>G

Chromosome 10 Risk Allele C Category Appetite & Obesity Appetite, Obesity, Insulin, Metabolic, Antidepressants, Drug Response

Promoter variant that alters alpha-2A adrenergic receptor expression, affecting adrenergic suppression of insulin secretion and lipolysis; C allele carriers show greater susceptibility to antipsychotic- and antidepressant-induced weight gain

rs1871534 — SLC39A4 Leu372Val

Chromosome 8 Risk Allele C Category Vitamins & Nutrient Absorption Zinc, Micronutrients, Minerals, Immune Defense, Ancestry-Specific, Metal Metabolism

Common missense variant in the primary intestinal zinc transporter ZIP4; the Val372 allele (C on the plus strand) reduces ZIP4 surface expression and zinc uptake capacity and reached near-fixation in West Africa through positive selection, likely via pathogen-zinc-starvation advantages; the Leu372 form (G allele) is standard in European and Asian populations.

rs201227603 — HPS3 HPS3 Splice Donor Variant

Chromosome 3 Risk Allele A Category Innate Immunity & Infection Defense Autoimmune, Pigmentation, Carrier Status, Blood Clotting, Ancestry-Specific, RNA Splicing, Thrombophilia

Splice donor variant in HPS3 that disrupts exon 5 inclusion, causing Hermansky-Pudlak syndrome type 3 in homozygotes and conferring carrier status in heterozygotes; enriched in the Ashkenazi Jewish population.

rs2066865 — FGG 10034C>T

Chromosome 4 Risk Allele A Category Coagulation & Clotting Factors Blood Clotting, Cardiovascular, Thrombophilia, Thrombosis, Venous Health, Inflammation

3' region variant in the fibrinogen gamma chain gene that shifts the gamma/gamma-prime isoform ratio, altering clot structure and increasing venous thromboembolism risk by 22-37% per allele in multiple large GWAS