Research — GeneOps

rs2243290 — IL4 IL4 Intron 3 Protective Haplotype Variant

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

Intronic IL4 variant that forms part of the protective C-G-C haplotype (rs2243250–rs2227284–rs2243290); the C allele is associated with reduced asthma susceptibility, while the A allele tracks with the high-Th2 haplotype and increased atopic disease risk

rs2471738 — MAPT H1c Sub-haplotype Tag (rs2471738)

Chromosome 17 Risk Allele T Category Neurology & Cognition Neurological Risk, Parkinson's, Dementia, Tau Pathology, Brain Health, Aging

Intronic MAPT variant whose T allele co-defines the H1c sub-haplotype, independently conferring OR 1.85 for progressive supranuclear palsy and OR 2.07 for corticobasal degeneration in the same meta-analysis validating rs242557

rs373489637 — CYP2B6 V183G

Chromosome 19 Risk Allele G Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, HIV Treatment, Pain Medication, Antidepressants

Near-complete loss-of-function CYP2B6 variant causing severely impaired metabolism of efavirenz, bupropion, methadone, and other CYP2B6 substrates

rs387907200 — SPR

Chromosome 2 Risk Allele T Category Methylation & Detox Methylation & Detox, Neurotransmitters, Dopamine, Serotonin, Detoxification, Parkinson's

Missense/splicing variant in sepiapterin reductase that reduces BH4 biosynthesis to ~15% of normal, impairing dopamine and serotonin production; causes dopa-responsive dystonia in biallelic carriers

rs5210 — KCNJ11 KCNJ11 Kir6.2 Co-Variant

Chromosome 11 Risk Allele G Category Blood Sugar & Diabetes Diabetes, Insulin, Pancreatic Beta Cell, Metabolic, Fasting Glucose

A regulatory 3' UTR variant in KCNJ11 that modulates KATP channel expression via microRNA binding, influencing insulin secretion and sulfonylurea drug response

rs692383 — ABCG1 ABCG1 HDL-c Variant

Chromosome 21 Risk Allele A Category Triglycerides & Fatty Acids HDL Cholesterol, Triglycerides, Cholesterol, Cardiovascular, Fat Metabolism, Obesity

Intronic variant in the ABCG1 cholesterol efflux transporter gene associated with differential HDL-cholesterol response during calorie-restricted dieting; G allele carriers preserve HDL-c more effectively, while AA homozygotes show greater HDL-c reduction when losing weight.

rs7137828 — ATXN2

Chromosome 12 Risk Allele T Category Longevity & Aging Longevity, Aging, Glaucoma, Eye Health, Neurodegeneration, mTOR Pathway

Intronic ATXN2 variant associated with primary open-angle glaucoma risk; T allele elevates odds of glaucoma by ~17% per copy

rs7850258 — PTCSC2

Chromosome 9 Risk Allele G Category Hormones & Sleep Hormones & Thyroid, Thyroid, Hormones, Fatigue, Metabolic Health

Intronic variant in the PTCSC2 lncRNA that alters a FOXE1 enhancer element, modulating thyroid gland development and hypothyroidism risk

rs2244012 — RAD50 RAD50 Intron 2 Variant

Chromosome 5 Risk Allele G Category Allergy & Atopic Disease Asthma, Inflammation, Immune Response, Autoimmune, T-Cell Regulation, Skin Health

Intronic variant in RAD50 on chromosome 5q31.1 that was the top GWAS hit for asthma at this locus (P=3.04×10⁻⁷); the G allele tags a regulatory haplotype in the Th2 locus control region and is associated with elevated serum IgE and susceptibility to asthma and atopic disease through amplified IL-4/IL-13 output

rs2523506 — DDX39B

Chromosome 6 Risk Allele T Category Neurology & Cognition Immune & Autoimmune, Multiple Sclerosis, RNA Splicing, T-Cell Regulation, Autoimmunity

Regulatory variant in the 5' UTR of DDX39B (RNA helicase/mRNA export factor) that reduces DDX39B translation, impairing IL7R exon 6 inclusion and increasing soluble IL7R — the strongest known epistatic interaction in MS genetics