Research — GeneOps

rs121908677 — SLC7A7 SLC7A7 p.Gly54Val

Chromosome 14 Risk Allele A Category Metabolic Enzymes & Rare Disorders Micronutrients, Carrier Status, Genetic Counseling, Bone Health, Lung Health, Metabolism

Pathogenic missense variant in the y+LAT1 cationic amino acid transporter; homozygosity abolishes intestinal and renal transport of lysine, arginine, and ornithine, causing lysinuric protein intolerance

rs121918387 — APOB ApoB-67 frameshift

Chromosome 2 Risk Allele D Category Cholesterol & Lipoproteins Cholesterol, Cardiovascular, Fat Metabolism, Liver Health, Vitamin D, Vitamin E

Single-nucleotide deletion in APOB creating a truncated apolipoprotein B (ApoB-67) — carriers have dramatically reduced LDL and total cholesterol with strong cardiovascular protection, but face risk of hepatic steatosis and fat-soluble vitamin deficiency

rs12696304 — TERC

Chromosome 3 Risk Allele G Category Longevity & Aging Mental Health, Cardiovascular, Diet

Regulatory variant near the telomerase RNA gene associated with shorter telomeres and accelerated cellular aging

rs12704795 — PON2 PON2 intron 1 variant

Chromosome 7 Risk Allele A Category Vascular Inflammation & Remodeling Oxidative Stress, Cardiovascular, Atherosclerosis, Mitochondria, Antioxidants, Renal Function

Intronic PON2 haplotype tag; the A allele is associated with reduced intracellular antioxidant protection in vascular and renal cells, with the CC genotype conferring 32% lower risk of diabetic microalbuminuria versus AA homozygotes

rs12970134 — MC4R MC4R region variant

Chromosome 18 Risk Allele A Category Appetite & Obesity Appetite, Obesity, Metabolic, Insulin Resistance, Cardiovascular, Hormones

Near-gene variant ~188kb downstream of MC4R associated with increased waist circumference, insulin resistance, and obesity risk through the same regulatory block as rs17782313

rs13394619 — GREB1

Chromosome 2 Risk Allele G Category Endometriosis & Uterine Health Endometriosis, Fertility, Reproductive Health, Estrogen, Hormones, Women's Health

Intronic variant in GREB1, an estrogen-responsive gene; the G allele is associated with increased risk of endometriosis, particularly moderate-to-severe disease, across European and East Asian populations

rs13407913 — ADCY3

Chromosome 2 Risk Allele G Category Fitness & Body Obesity, Appetite, Fat Metabolism, Metabolic, Diabetes, Insulin

Intronic variant in the adenylyl cyclase 3 gene, which encodes a cAMP-producing enzyme essential for hypothalamic ciliary signaling that regulates appetite and body weight

rs1360590 — CDKN2BAS

Chromosome 9 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Atherosclerosis, Inflammation, Periodontal Disease, Heart Disease, Inflammaging

Intronic variant in ANRIL at the 9p21.3 locus — the shared susceptibility region for coronary artery disease and periodontitis; the C allele elevates inflammatory signaling through ANRIL dysregulation and increases susceptibility to aggressive and chronic periodontitis

rs137852689 — STAR R217T (Arg217Thr)

Chromosome 8 Risk Allele G Category Reproductive Hormones Reproductive Health, Hormones, Steroid Hormones, Fertility, Cortisol, Stress Response

Pathogenic STAR variant that abolishes steroidogenic acute regulatory protein activity, causing lipoid congenital adrenal hyperplasia — the most severe form of CAH, with absent cortisol, aldosterone, and sex steroid production

rs148234606 — SLC52A2 Leu339Pro

Chromosome 8 Risk Allele C Category Vitamins & Nutrient Absorption B Vitamins, Vitamins, Carrier Status, Neurological Risk, Micronutrients, Sensorineural

Pathogenic missense variant in the riboflavin transporter RFVT2 that abolishes cellular vitamin B2 uptake, causing Brown-Vialetto-Van Laere syndrome type 2; high-dose riboflavin supplementation can dramatically reverse neurological decline when started early.