Research — GeneOps

rs1927911 — TLR4

Chromosome 9 Risk Allele G Category Vascular Inflammation & Remodeling Inflammation, Cardiovascular, Innate Immunity, Atherosclerosis, Immune Response, Heart Disease

Intronic TLR4 variant in the innate immune receptor gene; the A allele associates with modestly reduced vascular inflammation and lower risk of nonfatal myocardial infarction, while the common GG genotype is linked to higher atherosclerotic cerebral infarction risk

rs2229765 — IGF1R c.3179G>A (E1013E)

Chromosome 15 Risk Allele G Category Longevity & Aging Longevity, Insulin, Growth Factors, Aging, Diet

Synonymous IGF1R variant associated with lower circulating IGF-1 levels and enrichment in long-lived populations — affects mRNA splicing despite preserving the amino acid sequence

rs2249891 — ABCA1

Chromosome 9 Risk Allele G Category Cholesterol & Lipoproteins Cholesterol, Cardiovascular, Fat Metabolism, HDL Cholesterol

Intronic ABCA1 variant associated with lower HDL-cholesterol susceptibility and coronary heart disease risk at one of the most replicated lipid GWAS loci

rs2301436 — FGFR1OP

Chromosome 6 Risk Allele T Category IBD & Mucosal Immunity Autoimmune, Crohn's Disease, Inflammatory Bowel Disease, IBD, Immune & Autoimmune, Inflammation

Intronic variant in FGFR1OP (CEP43) at the RNASET2-FGFR1OP-CCR6 autoimmune susceptibility locus, with the T allele increasing risk for Crohn's disease, rheumatoid arthritis, and related autoimmune conditions

rs2568958 — NEGR1 NEGR1 depression/BMI variant

Chromosome 1 Risk Allele G Category Mood & Behavior Depression, Mood, Appetite, Obesity, Neuroplasticity, Brain Health

Intergenic tag SNP near NEGR1 associated with elevated BMI and major depression risk through hypothalamic NEGR1 expression — one of the most replicated obesity GWAS loci and a genome-wide significant depression locus

rs267606898 — MT-ND5

Chromosome MT Risk Allele A Category Metabolic Enzymes & Rare Disorders Mitochondria, Energy Metabolism, Neurodegeneration, Carrier Status, Genetic Counseling, Fatigue

Heteroplasmic missense variant in the mitochondrially encoded ND5 subunit of complex I, causing variable-penetrance mitochondrial disease including Leigh syndrome, MELAS, and Leber optic atrophy depending on mutation load.

rs3184504 — SH2B3 R262W

Chromosome 12 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Inflammation, Autoimmune, Blood Pressure, Thrombosis, Longevity, Thrombophilia

Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing blood pressure, CAD risk, platelet count, and susceptibility to autoimmune diseases

rs33996649 — PTPN22 R263Q

Chromosome 1 Risk Allele T Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, Immune System, Lupus, Rheumatoid Arthritis, Inflammatory Bowel Disease, Immune & Autoimmune

Protective loss-of-function variant in the PTPN22 catalytic domain that reduces phosphatase activity and lowers risk of SLE, RA, and ulcerative colitis

rs371898076 — MYH7 Arg663His (R663H)

Chromosome 14 Risk Allele T Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Genetic Counseling, Carrier Status, Fibrosis

Pathogenic missense variant in the myosin motor domain causing hypertrophic cardiomyopathy with a 47% lifetime atrial fibrillation rate in affected adults; requires family cardiac screening

rs3743930 — MEFV E148Q

Chromosome 16 Risk Allele G Category TNF, NF-kB & Inflammatory Cytokines Innate Immunity, Inflammation, Autoimmune, Ancestry-Specific, Amyloidosis, Carrier Status

Exon 2 missense variant in the inflammasome regulator pyrin; the most common and most debated MEFV variant, classified as likely benign by most clinical labs but associated with mild FMF-like symptoms in some homozygous carriers, especially in Middle Eastern and East/South Asian populations