Research — GeneOps

rs62623713 — SYPL2 E99G

Chromosome 1 Risk Allele G Category Fitness & Body Obesity, Fat Metabolism, Fat Distribution, Metabolic, Fitness

Low-frequency missense variant in SYPL2 associated with morbid obesity susceptibility and sex-specific fat distribution patterns

rs6564851 — BCO1

Chromosome 16 Risk Allele G Category Vitamins & Nutrient Absorption Vitamin A, Beta-Carotene, Diet, Eye Health

Upstream regulatory variant that reduces BCO1 (BCMO1) catalytic activity by ~48%, independently limiting beta-carotene to vitamin A conversion; the top GWAS hit for circulating beta-carotene levels

rs7091565 — ANXA11 ANXA11 rs7091565

Chromosome 10 Risk Allele C Category Innate Immunity & Infection Defense Autoimmune, Inflammation, Lung Health, Apoptosis, Immune & Autoimmune, Immune Response

3' UTR variant in ANXA11 (annexin A11) in strong LD with the functional R230C missense variant (rs1049550); the C allele tags the sarcoidosis-risk haplotype and is associated with increased susceptibility to pulmonary granulomatous inflammation

rs71180793 — OBSCN OBSCN c.23838del

Chromosome 1 Risk Allele D Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Muscle, Connective Tissue, Carrier Status, Genetic Counseling

Frameshift deletion in obscurin, a giant sarcomeric scaffold protein; heterozygous carriers have a moderately elevated risk of OBSCN-related cardiomyopathy, warranting cardiac surveillance.

rs73885319 — APOL1 G1 S342G

Chromosome 22 Risk Allele G Category Cholesterol & Lipoproteins Kidney Disease, Nephrology, Immune Defense, Ancestry-Specific, Renal Function

APOL1 G1 kidney disease risk variant — missense change that evolved for trypanosome resistance but causes nephropathy in the recessive state

rs753085 — COL27A1

Chromosome 9 Risk Allele A Category Coronary Artery Disease & Atherosclerosis Collagen, Connective Tissue, Cardiovascular, Extracellular Matrix, Bone & Joint

Intronic variant in COL27A1 (collagen type XXVII alpha-1) associated with altered connective tissue integrity and elevated varicose vein risk.

rs806368 — CNR1

Chromosome 6 Risk Allele T Category Mood & Behavior Addiction, Neurotransmitters, Brain Health, Endocannabinoid, Dopamine, Cannabis

3'UTR variant in the cannabinoid receptor 1 gene that regulates CB1 expression in the brain and modulates vulnerability to cannabis, alcohol, nicotine, and cocaine dependence, as well as impulsivity and emotional reactivity

rs887829 — UGT1A1 UGT1A1*80

Chromosome 2 Risk Allele T Category Vascular Inflammation & Remodeling Bilirubin, Pharmacogenomics, Drug Metabolism, Cardiovascular, Liver Health, Oxidative Stress, Phase II, Detoxification

Promoter variant in UGT1A1 that tags the *28 reduced-expression haplotype; T allele carriers have lower hepatic UGT1A1 expression, mildly elevated unconjugated bilirubin (Gilbert syndrome spectrum), and altered metabolism of bilirubin, atazanavir, and irinotecan

rs9819506 — GHSR GHSR Promoter Variant (Ghrelin Receptor Signaling)

Chromosome 3 Risk Allele C Category Appetite & Obesity Appetite, Obesity, Satiety, Metabolic Health, Hormones, Fat Metabolism

Promoter-region tag SNP in the ghrelin receptor gene associated with body weight and dietary weight loss response; the T allele is linked to lower body weight and greater weight loss after both dietary intervention and bariatric surgery, likely through LD with nearby functional GHSR promoter variants

rs1885013 — RAD51B RAD51B Rheumatoid Arthritis Variant

Chromosome 14 Risk Allele G Category Allergy & Atopic Disease Asthma, DNA Repair, Arthritis, Autoimmune, Immune System, Rheumatoid Arthritis

Intronic variant in RAD51B (RAD51 paralog B), a DNA double-strand break repair gene; the G allele is associated with increased susceptibility to asthma and atopic disease, while the A allele associates with rheumatoid arthritis risk, implicating RAD51B in shared immune dysregulation across inflammatory conditions