Research — GeneOps

rs4148102 — ABCG1 ABCG1 intronic PUFA-interaction variant

Chromosome 21 Risk Allele A Category Triglycerides & Fatty Acids Fat Metabolism, Triglycerides, Omega-3, Diet, Cardiovascular, Cholesterol

Intronic variant in the ABCG1 cholesterol efflux transporter gene that modifies how dietary polyunsaturated fat intake affects LDL and total cholesterol; AA homozygotes consuming high-PUFA diets show markedly elevated LDL-cholesterol.

rs4975605 — TERT

Chromosome 5 Risk Allele A Category Longevity & Aging Telomere Biology, Cancer Risk, Aging, Longevity, Cancer Screening, Genomic Stability

Intronic TERT variant influencing telomere maintenance, associated with testicular and ovarian cancer risk, reduced platinum chemotherapy benefit in lung cancer, and a protective effect against paranoid schizophrenia

rs5443 — GNB3 C825T

Chromosome 12 Risk Allele T Category Hormones & Sleep Hypertension, Blood Pressure, Antidepressants, Cardiovascular, Obesity, Metabolic Syndrome, Hormones, Neurotransmitters

Synonymous exon-10 variant that triggers alternative splicing of the G-protein beta-3 subunit, amplifying signaling through virtually every GPCR — affecting blood pressure, weight regulation, hormonal responses, sleep timing, and antidepressant efficacy

rs8177374 — TIRAP Ser180Leu

Chromosome 11 Risk Allele T Category Innate Immunity & Infection Defense Immune System, Inflammation, Infectious Disease, Autoimmune, Innate Immunity

Missense variant in the TLR2/TLR4 adaptor protein Mal that modulates innate immune signaling strength, conferring broad infectious disease protection in heterozygous carriers

rs193922916 — APP A673V (Aβ A2V)

Chromosome 21 Risk Allele A Category Neurology & Cognition Alzheimer's, Neurodegeneration, Cognitive Decline, Amyloidosis, Carrier Status, Genetic Counseling

Recessive pathogenic APP missense variant causing early-onset Alzheimer's disease in homozygotes; heterozygous carriers are unaffected due to a dominant-negative inhibition of amyloid aggregation

rs2070874 — IL4 IL4 C-33T

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Asthma, Inflammation, Autoimmune, Immune Response, Immune System, Skin Health

5'-UTR variant 33 bases downstream of the IL-4 transcription start site; the T allele alters local RNA secondary structure and is associated with elevated IL-4 production, raised serum IgE, and increased susceptibility to allergic asthma and allergic rhinitis through amplified Th2-skewed immune responses

rs2275565 — MTR IVS (intronic)

Chromosome 1 Risk Allele T Category Methylation & Detox Methylation, B Vitamins, Homocysteine

Intronic MTR variant associated with B12-dependent methylation stress

rs28371706 — CYP2D6 *17

Chromosome 22 Risk Allele A Category Pharmacogenomics Drug Metabolism, Antidepressants, Pain Medication, Ancestry-Specific, Pharmacogenomics

Decreased-function CYP2D6 allele common in African populations, reducing metabolism of antidepressants, antipsychotics, opioids, and tamoxifen

rs391300 — SRR SRR rs391300

Chromosome 17 Risk Allele C Category Blood Sugar & Diabetes Diabetes, Insulin, Pancreatic Beta Cell, Metabolic, Neurotransmitters, Ancestry-Specific

Intronic variant in serine racemase that alters D-serine production in pancreatic beta cells, modulating NMDA receptor signaling and glucose-stimulated insulin secretion; C allele associated with increased type 2 diabetes risk, particularly in East Asian populations

rs4775065 — LIPC

Chromosome 15 Risk Allele A Category Triglycerides & Fatty Acids Fat Metabolism, HDL Cholesterol, Cardiovascular, Cholesterol, Heart Disease, Triglycerides

Intronic LIPC variant associated with susceptibility to low HDL-C and coronary heart disease through hepatic lipase activity modulation; A allele (minor, ~29% globally) confers elevated CHD risk