Research — GeneOps

rs6232 — PCSK1 PCSK1 N221D (Asn221Asp)

Chromosome 5 Risk Allele C Category Appetite & Obesity Obesity, Insulin, Appetite, Pancreatic Beta Cell, Energy Metabolism, Satiety

Missense variant in PCSK1 encoding an Asn221Asp substitution near the Ca-1 calcium binding site of prohormone convertase 1/3 (PC1/3); impairs catalytic activity by approximately 10%, reducing cleavage of proinsulin to insulin, POMC to alpha-MSH, and proglucagon to GLP-1; the strongest functionally-characterized common PCSK1 coding variant, with OR 1.15 for obesity in meta-analysis of over 331,000 individuals across multiple ethnic groups

rs6557160 — CCDC170/ESR1

Chromosome 6 Risk Allele C Category Endometriosis & Uterine Health Endometriosis, Estrogen, Estrogen Metabolism, Breast Cancer, Bone Health, Women's Health

Intergenic 6q25.1 variant between CCDC170 and ESR1; the C allele is an eQTL for CCDC170 expression and is associated with breast cancer risk, bone density, and estrogen-sensitive tissue proliferation

rs7234029 — PTPN2

Chromosome 18 Risk Allele G Category Autoimmune Tolerance & T-Cell Regulation T-Cell Regulation, Inflammation, IBD, Crohn's Disease, Autoimmune, Rheumatoid Arthritis

Intronic PTPN2 variant that reduces expression of T-cell protein tyrosine phosphatase (TC-PTP), lowering the threshold for JAK/STAT-driven T-cell activation and increasing susceptibility to Crohn's disease, rheumatoid arthritis, and juvenile idiopathic arthritis

rs7660895 — SLC2A9

Chromosome 4 Risk Allele G Category Uric Acid & Kidney Function Uric Acid, Gout, Kidney, Micronutrients, Diet, Kidney Function

Intronic variant in the major renal urate transporter GLUT9; the G allele reduces renal urate excretion, raising serum uric acid and increasing gout risk, with stronger effects in women than men

rs7951 — C3

Chromosome 19 Risk Allele A Category B-Cell Immunity & Antibody-Mediated Disease Complement System, Lupus, Autoimmune, Inflammation, Kidney Disease, Immune Function

Synonymous C3 variant associated with reduced serum complement C3 levels and increased risk for systemic lupus erythematosus through impaired complement-mediated immune complex clearance

rs8094327 — NEDD4L

Chromosome 18 Risk Allele G Category Blood Pressure & Hypertension Blood Pressure, Hypertension, Salt Sensitivity, Kidney, Cardiovascular, Heart Disease

Intronic NEDD4L variant tagging the haplotype block that modulates ENaC sodium channel ubiquitination and blood pressure regulation

rs17518584 — CADM2

Chromosome 3 Risk Allele C Category Neurology & Cognition Cognition, Brain Health, Neuroplasticity, Neurotransmitters, Memory, Lifestyle

Intronic CADM2 variant genome-wide significant for information processing speed; the C allele is associated with slower reaction time and cognitive throughput, while T carriers show faster symbol-digit substitution performance

rs17696736 — NAA25 NAA25 G/A

Chromosome 12 Risk Allele G Category Blood Sugar & Diabetes Type 1 Diabetes, Autoimmune, T-Cell Regulation, Uric Acid, Metabolic Health, Immune & Autoimmune

Intronic tag SNP at the 12q24 locus that captures SH2B3/LNK regulatory variation, increasing risk for type 1 diabetes, juvenile idiopathic arthritis, and other autoimmune diseases; also associated with modest effects on lipid levels and serum urate

rs1799930 — NAT2 R197Q

Chromosome 8 Risk Allele A Category Methylation & Detox Detoxification, Acetylation, Drug Metabolism, Phase II, Xenobiotics

Slow acetylator variant affecting Phase II detoxification capacity

rs1934980 — CYP2C8

Chromosome 10 Risk Allele G Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Cardiovascular, Cancer Treatment, Bone Health

Intronic CYP2C8 variant linked to altered enzyme expression and associated with bisphosphonate-related jaw complications and clopidogrel response