Research — GeneOps

rs1000940 — RABEP1 RABEP1 Metabolic-Immune Regulatory Variant

Chromosome 17 Risk Allele A Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, Metabolic, Pharmacogenomics, Insulin Resistance, Fasting Glucose, Drug Response

Intronic variant in RABEP1 associated with fasting glucose modulation under psychotropic drug treatment; G allele carriers show lower glucose levels, potentially reflecting altered endosomal trafficking of metabolic receptors

rs10010131 — WFS1 WFS1 Intron 4 T2D Risk Variant

Chromosome 4 Risk Allele G Category Blood Sugar & Diabetes Diabetes, Pancreatic Beta Cell, Insulin, Fasting Glucose, Metabolic, Metabolic Health

Intronic variant in WFS1 (wolframin) on chromosome 4q22, one of the earliest and most replicated common genetic risk factors for type 2 diabetes, acting through ER stress dysregulation in pancreatic beta cells; the protective A allele tags a haplotype associated with preserved beta-cell insulin secretion

rs1001179 — CAT -262C>T

Chromosome 11 Risk Allele T Category Methylation & Detox Detoxification, Antioxidants, Oxidative Stress, Inflammation, Methylation, Cardiovascular, Metabolic, Cancer Risk

Catalase promoter variant affecting hydrogen peroxide clearance and antioxidants defense capacity

rs1003194 — CALCA/CALCB

Chromosome 11 Risk Allele A Category Neurology & Cognition Migraine, Pain Sensitivity, Brain Health, Neurological Risk, Neurotransmitters, Cardiovascular

Intergenic regulatory variant ~26 kb downstream of CALCB (calcitonin gene-related peptide beta) that is the first GWAS locus to directly implicate the CGRP-encoding gene region in migraine susceptibility; the minor A allele increases migraine risk and the variant is a cis-eQTL for CALCB — the direct molecular target of anti-CGRP monoclonal antibodies and gepants

rs10033464 — KCNN3 KCNN3 AF susceptibility variant

Chromosome 4 Risk Allele T Category Arrhythmia & Heart Rhythm Arrhythmia, Cardiovascular, Heart Disease, Cerebrovascular, Blood Clotting, Thrombophilia

Intergenic 4q25 variant near KCNN3 and PITX2 that confers an independent risk of atrial fibrillation by modulating atrial electrophysiology

rs10033900 — CFI

Chromosome 4 Risk Allele T Category Longevity & Aging Complement System, Eye Health, Retinal Health, Inflammation, Aging, Immune System

Intronic variant in complement factor I associated with age-related macular degeneration risk through complement dysregulation

rs10045431 — IL12B

Chromosome 5 Risk Allele C Category Psoriasis & Spondyloarthropathy Autoimmune, Inflammation, IBD, Crohn's Disease, Psoriasis, JAK-STAT Signaling

Upstream tagging SNP at the IL12B locus that marks the Th1/Th17 risk haplotype; the C allele is associated with elevated IL-12p40 expression and increased susceptibility to psoriasis, Crohn's disease, and other IL-12/IL-23-mediated autoimmune conditions

rs1004819 — IL23R

Chromosome 1 Risk Allele A Category IBD & Mucosal Immunity Inflammation, Autoimmune, IBD, Arthritis, Immune & Gut

Intronic IL-23 receptor variant that increases susceptibility to ankylosing spondylitis and inflammatory bowel disease by enhancing IL-23/Th17 inflammatory signaling

rs10063949 — SLC23A1 SLC23A1 variant

Chromosome 5 Risk Allele C Category Vitamins & Nutrient Absorption Vitamin C, Vitamins, Micronutrients, Antioxidants, Gut Health, Inflammation

Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT1) associated with susceptibility to Crohn disease through impaired ascorbate transport and heightened intestinal oxidative stress; the C allele (minor in Europeans, major in Africans) confers dose-dependent disease risk

rs1006737 — CACNA1C

Chromosome 12 Risk Allele A Category Mood & Behavior Mental Health, Brain Health, Mood, Depression, Anxiety, Stress, Cardiovascular, Calcium, Neuroplasticity

L-type calcium channel gene variant affecting mood regulation, emotional processing, and psychiatric disorder risk