Research — GeneOps

rs1800896 — IL10 -1082 A>G

Chromosome 1 Risk Allele C Category Interferon Signaling & Systemic Autoimmune Immune & Autoimmune, Inflammation, Autoimmune, Cardiovascular

Promoter variant affecting IL-10 production — the master anti-inflammatory cytokine that regulates immune response

rs1801155 — APC I1307K

Chromosome 5 Risk Allele A Category Cancer Risk Cancer Risk, Tumor Suppressor, Colorectal Cancer, Cancer Screening, Ancestry

Missense variant in the APC tumor suppressor that creates a hypermutable poly-A tract, increasing somatic mutation rate and colorectal cancer risk approximately 1.5-2 fold — strongly enriched in Ashkenazi Jewish populations (~6% carrier frequency)

rs1801274 — FCGR2A H131R

Chromosome 1 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Autoimmune, Lupus, Rheumatoid Arthritis, Immune Response, Inflammation, Innate Immunity

Missense variant in Fc gamma receptor IIa that substitutes histidine (H131, high-affinity) for arginine (R131, low-affinity) at the IgG2-binding site, altering immune complex clearance efficiency and modulating risk for lupus nephritis, Kawasaki disease, and biologic therapy response

rs186021206 — ASGR1

Chromosome 17 Risk Allele A Category Atherogenic Lipoproteins Cardiovascular, Heart Disease, LDL Cholesterol, Cholesterol, Atherosclerosis, Liver

Intergenic tag SNP 7.3 kb downstream of ASGR1; the rare A allele proxies the ASGR1 del12 loss-of-function variant (r²=0.86) and associates with ~13 mg/dL lower non-HDL cholesterol and a 34% reduced risk of coronary artery disease

rs2147349 — XPO4

Chromosome 13 Risk Allele G Category Gamete Quality & DNA Repair Ovarian Reserve, Menopause, Fertility, DNA Repair, Mitochondria, Reproductive Health

Intronic variant in XPO4 (chromosome 13q12.11) at a locus associated with age at natural menopause in the large-scale Ruth et al. 2021 GWAS; XPO4 encodes a nuclear export receptor required for cytoplasmic delivery of ribosomal subunits and regulatory factors, a process critical for oocyte translational competence and mitochondrial ribosome maintenance

rs2228603 — NCAN T130M (Pro92Ser)

Chromosome 19 Risk Allele T Category Liver Fat Fat Metabolism, Cardiovascular, Cholesterol, Liver, Diet

Missense variant in neurocan associated with hepatic steatosis, liver inflammation and fibrosis progression, and altered lipid metabolism in the context of NAFLD.

rs225011 — DIO2

Chromosome 14 Risk Allele C Category Vitamin D Metabolism Thyroid, Hormones & Thyroid, Autoimmune, Micronutrients, Metabolism

Intronic DIO2 variant nominally associated with Graves' disease susceptibility and early-onset type 2 diabetes; may influence DIO2 expression in a gene carrying the key T4-to-T3 conversion enzyme

rs2274327 — CA6 Thr55Met

Chromosome 1 Risk Allele T Category Dental & Oral Health Dental & Oral Health, Zinc, Microbiome, Inflammation, Diet

Reduces salivary carbonic anhydrase VI (gustin) secretion, impairing oral acid buffering and increasing susceptibility to dental caries

rs28937317 — SCN5A N1325S

Chromosome 3 Risk Allele C Category Arrhythmia & Heart Rhythm Arrhythmia, Cardiovascular, Heart Disease, Genetic Counseling, Pharmacogenomics

Rare gain-of-function missense variant in the cardiac sodium channel Nav1.5 causing Long QT syndrome type 3 through persistent late sodium current and prolonged ventricular repolarization

rs104894011 — GCK Glu265Lys (MODY2)

Chromosome 7 Risk Allele T Category Blood Sugar & Diabetes Diabetes, Insulin, Metabolic Health, Genetic Counseling, Carrier Status

Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting hyperglycemia that typically requires no pharmacologic treatment