Research — GeneOps

rs13207033 — TNFAIP3

Chromosome 6 Risk Allele G Category TNF, NF-kB & Inflammatory Cytokines Autoimmune, Inflammation, Rheumatoid Arthritis, Lupus, Immune & Gut

Intergenic protective variant near TNFAIP3 that tags a haplotype associated with enhanced A20-mediated NF-kB suppression, reducing rheumatoid arthritis and ankylosing spondylitis risk at the 6q23 locus

rs13236689 — CD36

Chromosome 7 Risk Allele G Category Triglycerides & Fatty Acids Fat Metabolism, Cardiovascular, Lipid Metabolism, Atherosclerosis, Triglycerides, Metabolic Syndrome

Intronic CD36 variant that acts as a platelet eQTL, modulating CD36 surface expression and influencing platelet activation, oxidized-LDL uptake, and postprandial lipid handling.

rs1378577 — ABCG1 ABCG1 ischemic stroke variant

Chromosome 21 Risk Allele T Category Atherogenic Lipoproteins Atherosclerosis, Cardiovascular, Cholesterol, HDL Cholesterol, Inflammation, Lipid Metabolism

Regulatory variant ~2kb upstream of ABCG1 that modulates transporter expression in macrophages; the G allele is associated with reduced risk of ischemic stroke, particularly the atherothrombotic subtype, likely through effects on HDL-mediated cholesterol clearance from arterial plaques

rs1776897 — HMGA1

Chromosome 6 Risk Allele G Category Liver Fat Fat Metabolism, Obesity, Insulin, Cardiovascular

Chromatin remodeling variant near HMGA1 associated with waist-to-hip ratio and height through transcriptional regulation in adipose tissue

rs1799950 — BRCA1 Q356R

Chromosome 17 Risk Allele C Category Cancer Risk Cancer Risk, BRCA, DNA Repair, Cancer Screening, Breast Cancer

Common missense variant near the BRCA1 RING finger domain; associated with modestly elevated breast cancer risk (OR ~1.1-1.3) but classified as benign/likely benign — not a pathogenic BRCA1 mutation

rs1799977 — MLH1 Ile219Val

Chromosome 3 Risk Allele G Category Gamete Quality & DNA Repair DNA Repair, Mismatch Repair, Genomic Stability, Cancer Risk, Fertility, Sperm Quality

Missense variant in the MLH1 ATPase domain (c.655A>G, p.Ile219Val) that substitutes isoleucine for valine at a conserved hydrophobic position; classified benign for Lynch syndrome with intact mismatch repair activity, but the G allele shows modest associations with altered DNA repair kinetics and may influence meiotic recombination efficiency

rs1993116 — CYP2R1 CYP2R1 rs1993116

Chromosome 11 Risk Allele G Category Vitamin D Metabolism Vitamin D, Vitamins, Bone Health, Cardiovascular, Diet

Intronic regulatory variant in CYP2R1 that reduces hepatic vitamin D 25-hydroxylase expression, lowering the rate of vitamin D activation and increasing susceptibility to vitamin D insufficiency

rs199473521 — KCNH2 K595N

Chromosome 7 Risk Allele A Category Arrhythmia & Heart Rhythm Arrhythmia, Cardiovascular, Heart Disease, Genetic Counseling, Pharmacogenomics

Ultra-rare KCNH2 missense variant substituting asparagine for lysine at position 595 in the C-linker domain, associated with congenital long QT syndrome type 2 through impaired hERG channel function

rs2235091 — KLK4

Chromosome 19 Risk Allele A Category Dental & Oral Health Dental & Oral Health, Enamel Health, Minerals, Calcium, Bone Health

Intronic variant in kallikrein-4 that encodes the enamel maturation protease; A allele associated with increased caries susceptibility and molar hypomineralization in permanent dentition

rs10456100 — KCNK5

Chromosome 6 Risk Allele T Category Neurology & Cognition Migraine, Neurological Risk, Pain Sensitivity, Brain Health, Chronic Pain, Neuroinflammation

Intronic variant near KCNK5 that reduces TASK2 potassium channel expression and increases migraine susceptibility; the T allele is associated with lower KCNK5 expression and an ~5% elevated odds of migraine per allele in the largest GWAS to date.