Research — GeneOps

rs11644943 — FTO FTO Mid-Gene Intron Variant

Chromosome 16 Risk Allele T Category Appetite & Obesity Obesity, Fat Metabolism, Metabolic, Diet, Appetite, Metabolic Health

An intronic FTO variant outside the well-known intron-1 obesity cluster; the T allele (GRCh38 reference, ~77% globally) is associated with increased obesity risk in Asian populations, while the protective A allele reduces obesity susceptibility. Not in linkage disequilibrium with the primary FTO obesity signals (rs9939609, rs1421085).

rs11967262 — VEGFA

Chromosome 6 Risk Allele G Category Vascular Inflammation & Remodeling Cardiovascular, Angiogenesis, Heart Disease, Inflammation, Thrombosis, Blood Clotting, Thrombophilia

Regulatory variant ~7 kb upstream of VEGFA linked to elevated varicose vein risk through altered vascular endothelial growth factor expression and venous wall remodeling

rs121434369 — GCDH R402W (Arg402Trp)

Chromosome 19 Risk Allele T Category Metabolic Enzymes & Rare Disorders Carrier Status, Genetic Counseling, Metabolic, Metabolism, Energy Metabolism, Micronutrients

Most common European allele for glutaric acidemia type 1; complete loss of GCDH enzyme activity when inherited with a second pathogenic allele, causing striatal necrosis during febrile crises if untreated

rs121908866 — TSHR W546X

Chromosome 14 Risk Allele A Category Reproductive Hormones Thyroid, Reproductive Health, Fertility, Hormones, Women's Health

Nonsense mutation in the TSHR gene (Trp546Ter) that eliminates functional TSH receptor expression; homozygotes develop severe congenital hypothyroidism; heterozygous carriers may have subclinical TSH elevation warranting monitoring

rs12206094 — FOXO3

Chromosome 6 Risk Allele C Category Longevity & Aging Longevity, Aging, Oxidative Stress, Inflammation, Insulin, Ovarian Reserve, Menopause

Functional FOXO3 intronic variant with allele-specific CTCF binding and IGF-1-reversible enhancer activity; T allele raises longevity odds ~22% across European cohorts

rs12640088 — PPARGC1A

Chromosome 4 Risk Allele C Category Fitness & Body Fitness, Endurance, Mitochondria, Diabetes, Energy Metabolism

Intronic variant in PPARGC1A that may modulate PGC-1alpha expression and mitochondrial biogenesis capacity, with a documented interaction with BMI in type 2 diabetes risk

rs12934922 — BCO1 Arg267Ser

Chromosome 16 Risk Allele T Category Vitamins & Nutrient Absorption Vitamins, Vitamin A, Diet, Food Sensitivity

Reduces beta-carotene to retinol (vitamin A) conversion efficiency, contributing to the "poor converter" phenotype

rs1310182 — PTPN22 PTPN22 Intron Variant (c.2054-852T>C)

Chromosome 1 Risk Allele G Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, T-Cell Regulation, Type 1 Diabetes, Immune System, Ancestry-Specific

Intronic PTPN22 variant in a transcription factor-binding site, associated with type 1 diabetes in Asian populations where the R620W coding variant is absent

rs13154066 — NPR3

Chromosome 5 Risk Allele C Category Endometriosis & Uterine Health Preeclampsia, Fertility, Reproductive Health, Blood Pressure, Cardiovascular

Regulatory variant near the NPR3 natriuretic peptide clearance receptor gene associated with gestational hypertension and preeclampsia risk; the C allele may increase NPR3-mediated peptide clearance, impairing vasodilatory natriuretic signaling during pregnancy

rs13210247 — TRAF3IP2

Chromosome 6 Risk Allele G Category Psoriasis & Spondyloarthropathy Immune & Gut, Autoimmune, Inflammation, Psoriasis, Arthritis, Biologic Therapy

Intronic variant in the TRAF3IP2 locus that lies within the antisense lncRNA TRAF3IP2-AS1 and amplifies IL-17 pathway dysregulation; the G allele is a gain-of-function mutation enhancing SRSF10 recruitment that suppresses IRF1-driven Act1 transcription; the G allele independently associates with psoriasis (OR=1.69) and co-occurs on a secondary risk haplotype (OR=1.8) alongside the primary risk haplotype carrying rs13210247_A (OR=2.7)