Research — GeneOps

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, atopic dermatitis, 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 elevated homocysteine and B12-dependent methylation stress

rs2583988 — SNCA

Chromosome 4 Risk Allele T Category Neurology & Cognition Neurological Risk, Parkinson's, Neuroprotection, Brain Health, Oxidative Stress, Cognitive Decline

SNCA upstream regulatory variant (near gene-5) that is part of the 4-SNP SNCA risk haplotype (OR 2.51 for PD) and shows an independent TT homozygote association with Parkinson's disease risk and cognitive impairment

rs28695233 — CYP2D6

Chromosome 22 Risk Allele G Category Pharmacogenomics Pharmacogenomics, Drug Metabolism, Antidepressants, Pain Medication

Deep intronic CYP2D6 variant in intron 2 that serves as a haplotype tag in specific CYP2D6 sub-alleles; independent functional effect on enzyme activity is not established

rs3787345 — PTPN1 PTPN1 LD Block Co-Variant

Chromosome 20 Risk Allele C Category Blood Sugar & Diabetes Insulin Resistance, Diabetes, LDL Cholesterol, Metabolic Health, Insulin, Cardiovascular

Intronic PTPN1 tag SNP within the 100-kb PTP1B insulin-resistance haplotype block; the minor C allele co-segregates with the risk haplotype associated with elevated PTP1B expression, impaired insulin signaling, and lipid dysregulation

rs3923809 — BTBD9

Chromosome 6 Risk Allele A Category Hormones & Sleep Sleep, Iron, Dopamine, Neurological Risk, Fatigue, Circadian

Second independent intronic BTBD9 variant associated with restless legs syndrome and periodic limb movements during sleep via iron homeostasis and dopaminergic dysregulation

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

rs6949152 — NRF1

Chromosome 7 Risk Allele G Category Longevity & Aging Mitochondria, Longevity, Aging, Aerobic Capacity, Endurance, Fitness

Intronic variant in the master mitochondrial biogenesis transcription factor — the G allele is associated with lower slow-twitch muscle fiber proportion and reduced aerobic training adaptability

rs897453 — PEMT

Chromosome 17 Risk Allele T Category Vitamins & Nutrient Absorption Methylation, Liver Health, Women's Health, B Vitamins, Fertility

PEMT missense variant (Val95Ile) reducing endogenous phosphatidylcholine synthesis and elevating dietary choline requirements, with strongest impact in premenopausal women and during pregnancy

rs2158177 — TH2LCRR RAD50/IL13 Region Variant

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

Intronic variant in TH2LCRR, a long noncoding RNA residing in the 5q31.1 RAD50/IL13 atopy susceptibility locus; the G allele is associated with elevated blood eosinophil counts, atopic dermatitis susceptibility in Chinese Han populations (OR 1.15), and asthma risk through amplified Th2 locus control region activity