Research — GeneOps

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

rs13164856 — IRF1

Chromosome 5 Risk Allele T Category Endometriosis & Uterine Health PCOS, Fertility, Reproductive Health, Gonadotropins, Testosterone, Hormones

PCOS-susceptibility tag SNP at the IRF1/RAD50 5q31 locus, associated with elevated testosterone levels and modestly increased PCOS risk in women of European ancestry

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 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)

rs13324341 — MRAS

Chromosome 3 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Atherosclerosis, Heart Disease, Inflammation, Biomarkers

Intronic MRAS variant that creates a MEF2 transcription factor binding site in vascular smooth muscle cells, increasing MRAS expression and promoting the pro-atherogenic synthetic phenotype switch linked to coronary artery disease

rs13405728 — LHCGR

Chromosome 2 Risk Allele A Category Fertility & Ovarian Function PCOS, Fertility, Reproductive Health, Hormones, Gonadotropins, IVF

Intronic variant in the LH/choriogonadotropin receptor gene associated with PCOS susceptibility and elevated androgen levels, predominantly in Asian and East African populations

rs1408799 — TYRP1 Intron variant

Chromosome 9 Risk Allele C Category Skin & Eyes Pigmentation, Eye Color, Sun Sensitivity, Melanoma Risk, UV Protection

Intronic variant in the eumelanin enzyme TYRP1 associated with eye and hair color, UV sensitivity, and modestly elevated melanoma risk in Europeans

rs1420318 — FTO

Chromosome 16 Risk Allele A Category Fitness & Body Fat Metabolism, Obesity, Bone Health, Alcohol, Metabolic

FTO intron 8 variant associated with nominal spine bone mineral density effects and alcohol dependence susceptibility; low LD with the rs9939609 obesity cluster

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.

rs1532085 — LIPC

Chromosome 15 Risk Allele A Category Triglycerides & Fatty Acids HDL Cholesterol, Fat Metabolism, Cholesterol, Triglycerides, Cardiovascular, Diet

Intronic eQTL that reduces hepatic lipase expression, raising HDL-C levels while elevating triglycerides

rs16890979 — SLC2A9

Chromosome 4 Risk Allele T Category Uric Acid & Kidney Function Gout, Uric Acid, Diet, Cardiovascular, Kidney Function

Missense variant in the GLUT9 renal urate transporter; the T allele (Val→Ile substitution) reduces urate reabsorption in the proximal tubule, lowering serum uric acid and conferring protection against hyperuricemia and gout