Research — GeneOps

rs10489629 — IL23R

Chromosome 1 Risk Allele T Category IBD & Mucosal Immunity Inflammation, Autoimmune, IBD, Arthritis, Immune & Gut

Intronic IL23R variant in LD block 2 where the T allele is associated with increased susceptibility to Crohn's disease and ankylosing spondylitis while the C allele is protective — a signal distinct from the rs1004819/rs7517847 haplotype block

rs1060502576 — BMPR2

Chromosome 2 Risk Allele A Category Vascular Inflammation & Remodeling Cardiovascular, Heart Disease, Hypertension, Carrier Status, Genetic Counseling, Fibrosis

Rare stop-gain variant in BMPR2 (p.Trp466Ter) that truncates the kinase domain via nonsense-mediated decay, causing haploinsufficiency and hereditary pulmonary arterial hypertension with incomplete penetrance and sex-dependent expression

rs10751659 — PRG3 PRG3 Eosinophil Major Basic Protein Homologue Variant

Chromosome 11 Risk Allele C Category Allergy & Atopic Disease Asthma, Inflammation, Immune Response, Innate Immunity, Immune Function, IBD

Intronic variant in the PRG3 gene encoding eosinophil major basic protein homologue (MBPH/MBP-2) at chromosome 11q12.1; the rarer C allele tags variation in PRG3 expression and is associated with altered eosinophil granule protein activity implicated in allergic inflammation, IgE-mediated tissue damage, and atopic disease susceptibility

rs10759931 — TLR4 -2604G>A

Chromosome 9 Risk Allele G Category Innate Immunity & Infection Defense TLR Signaling, Innate Immunity, Inflammation, Cardiovascular, Bacterial Sensing, Infection Risk

Promoter variant in Toll-like receptor 4 that drives higher TLR4 expression and amplified innate immune signaling, increasing risk for atherosclerosis, diabetic retinopathy, and inflammatory tissue damage

rs10786831 — SORCS3 SORCS3 Depression Variant

Chromosome 10 Risk Allele G Category Mood & Behavior Depression, Mood, Neuroplasticity, Brain Health, Anxiety, Neurotransmitters

Intronic variant in the neurotrophin sorting receptor SORCS3, the top GWAS hit for major depression in the Howard et al. 2019 meta-analysis of 807,553 individuals; the G allele impairs glutamate receptor trafficking, fear extinction, and synaptic plasticity

rs10830963 — MTNR1B Intron C>G

Chromosome 11 Risk Allele G Category Hormones & Sleep Sleep, Melatonin, Circadian, Diabetes, Insulin, Diet

Melatonin receptor variant that extends nighttime melatonin signaling in pancreatic beta cells, impairing glucose-stimulated insulin secretion — especially when meals are eaten late

rs10838738 — MTCH2

Chromosome 11 Risk Allele G Category Appetite & Obesity Obesity, Mitochondria, Energy Metabolism, Fat Metabolism, Adipogenesis, Metabolic

Intronic GWAS obesity variant in MTCH2 — affects mitochondrial energy balance, adipogenesis, and fatty acid oxidation through CPT1 regulation

rs10848087 — PIWIL1 PIWIL1 G>A (c.1128G>A)

Chromosome 12 Risk Allele A Category Fertility & Ovarian Function Fertility, Ovarian Reserve, Cancer Risk, Cancer Screening, Genomic Stability, Women's Health

Synonymous variant in PIWIL1 associated with increased epithelial ovarian cancer risk in southern Chinese women; the AA genotype confers a roughly 5.7-fold elevated risk in case-control data.

rs10848554 — ADIPOR2

Chromosome 12 Risk Allele C Category Fat Storage & Energy Adipogenesis, Cardiovascular, Fat Metabolism, Insulin Resistance, Metabolic Health, Omega-3

Intronic ADIPOR2 variant co-associated with cardiovascular disease risk in individuals with impaired glucose tolerance, tagging a haplotype of reduced hepatic adiponectin signaling through the ADIPOR2 locus

rs10852521 — FTO

Chromosome 16 Risk Allele C Category Fitness & Body Fitness, Fat Distribution, Obesity, Metabolic, Diet, Exercise, Cardiovascular

FTO intron 1 variant associated with BMI and body fat accumulation, with strongest effects seen in Hispanic and African American populations