Research — GeneOps

rs10514168 — TSHZ1

Chromosome 18 Risk Allele A Category Neurology & Cognition Hearing Loss, Sensory Processing, Brain Health, Neurological Risk, Congenital, Lifestyle

Intergenic variant downstream of TSHZ1, a transcription factor essential for inner ear and auditory canal development; the A allele is associated with increased constitutional susceptibility to motion sickness via vestibular pathway architecture

rs10519177 — FBN1

Chromosome 15 Risk Allele G Category Cardiomyopathy & Structural Heart Cardiovascular, Connective Tissue, Heart Disease, Extracellular Matrix, Inflammation

Intronic FBN1 variant that requires two copies of the G allele to impair fibrillin-1's TGF-β1 sequestration, elevating aortic dissection risk in a recessive pattern

rs1065852 — CYP2D6 *10

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

Decreased function CYP2D6 variant common in Asian populations

rs11061946 — ADIPOR2

Chromosome 12 Risk Allele T Category Fat Storage & Energy Insulin Resistance, Metabolic Health, Diabetes, Fat Metabolism, Energy Metabolism

Intronic variant in the adiponectin receptor 2 gene; rare homozygotes showed a markedly elevated risk of progression from impaired glucose tolerance to type 2 diabetes in a single Finnish cohort study, though evidence remains emerging and unreplicated.

rs11152221 — MC4R MC4R Proximal LD Block Variant

Chromosome 18 Risk Allele T Category Appetite & Obesity Appetite, Obesity, Metabolic, Fat Distribution, Leptin, Satiety

Intergenic variant in the proximal 3' regulatory block near MC4R associated with increased BMI, body fat percentage, elevated leptin, and severe obesity risk

rs11229030 — PRG2

Chromosome 11 Risk Allele C Category Allergy & Atopic Disease IBD, Crohn's Disease, Inflammation, Autoimmune, Gut Barrier, Immune & Gut

Intergenic tag SNP in the PRG2/PRG3 eosinophil major basic protein gene cluster at 11q12.1 whose C allele increases susceptibility to Crohn's disease, implicating eosinophil granule protein-mediated epithelial damage in IBD pathogenesis

rs11362 — DEFB1 G-20A

Chromosome 8 Risk Allele T Category IBD & Mucosal Immunity Innate Immunity, Gut Health, Immune & Gut, Crohn's Disease, Dental & Oral Health, Zinc

5' UTR variant in the beta-defensin 1 gene that reduces antimicrobial peptide expression in gut and mucosal epithelium, increasing susceptibility to colonic Crohn's disease and dental caries

rs1144566 — RGS16 RGS16 H137R

Chromosome 1 Risk Allele C Category Hormones & Sleep Chronotype, Circadian, Sleep, Hormones, Brain Health

Missense variant in RGS16 that substitutes histidine for arginine at position 137 of the G-protein signaling regulator expressed in the suprachiasmatic nucleus; the common C allele (Arg137, ~97.5% globally) has modestly reduced RGS16 function compared to the rare T allele (His137, ~2.5%), which is associated with morningness through enhanced cAMP gating in the master circadian clock

rs11572325 — CYP2J2

Chromosome 1 Risk Allele T Category Vascular Inflammation & Remodeling Cardiovascular, Heart Disease, Inflammation, Blood Pressure, Omega-3, Pharmacogenomics, Endothelial Health

Intronic CYP2J2 variant associated with increased myocardial infarction risk and female-specific hypertension susceptibility through reduced epoxyeicosatrienoic acid (EET) production

rs1159327 — ESR1 ESR1 intron variant

Chromosome 6 Risk Allele T Category Reproductive Hormones Estrogen, Bone Health, Fertility, Reproductive Health, Women's Health

Intronic variant in estrogen receptor alpha associated with bone mineral density; the T allele is linked to lower BMD and may influence ESR1 expression in bone and reproductive tissues