Research — GeneOps

rs696217 — GHRL Leu72Met

Chromosome 3 Risk Allele T Category Appetite & Obesity Obesity, Appetite, Metabolic Syndrome, Insulin, Fat Metabolism, Satiety, Diabetes

Missense variant in the ghrelin prepropeptide that impairs postprandial ghrelin suppression, increasing appetite, sugar intake, and metabolic syndrome susceptibility

rs7907606 — STN1

Chromosome 10 Risk Allele G Category Endometriosis & Uterine Health Reproductive Health, Fertility, Hormones, Uterine Health

Intergenic variant near STN1 (telomere maintenance) and SLK (cytoskeletal kinase) associated with uterine fibroid risk in multiple GWAS

rs9807989 — IL18R1

Chromosome 2 Risk Allele T Category TNF, NF-kB & Inflammatory Cytokines Autoimmune, Inflammation, Innate Immunity, Immune Response, IBD, Asthma

Upstream regulatory variant of IL18R1 on chromosome 2q12; the T risk allele increases IL-18 receptor expression and Th1/NK inflammatory signaling, raising susceptibility to COPD and linking to the broader IL1RL1/IL18RAP autoimmune-inflammation locus

rs17699436 — TBX21 TBX21 Downstream Regulatory Variant

Chromosome 17 Risk Allele G Category Allergy & Atopic Disease T-Cell Regulation, Autoimmune, Inflammation, Immune Function, Asthma, Immune Response

Intergenic variant 5 kb downstream of TBX21 (encoding the T-bet transcription factor) within the TBX21/OSBPL7 intergenic region; the G allele is associated with systemic sclerosis susceptibility and is thought to tag regulatory variation affecting the TBX21-IFNG transcriptional axis governing Th1 immune polarization.

rs1800693 — TNFRSF1A

Chromosome 12 Risk Allele C Category Neurology & Cognition Immune & Autoimmune, Inflammation, Drug Metabolism, Anti-TNF Biologics, Neuroinflammation, Autoimmune, Immune & Gut, Multiple Sclerosis

Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking anti-TNF drugs, conferring MS risk and explaining why TNF blockers worsen demyelinating disease

rs1801181 — CBS A360A

Chromosome 21 Risk Allele A Category Methylation & Detox Methylation, Homocysteine, B Vitamins, Cardiovascular, Inflammation

A synonymous variant in CBS affecting homocysteine metabolism and associated with modest changes in transsulfuration pathway activity

rs193922485 — HNF1B

Chromosome 17 Risk Allele T Category Blood Sugar & Diabetes Diabetes, Kidney Disease, Metabolic Health, Genetic Counseling, Carrier Status, Renal Function

Rare HNF1B splice-region intronic variant of uncertain significance, found near exon 9 of the HNF1B gene and submitted to ClinVar in the context of renal cysts and diabetes syndrome (MODY5 / HNF1B-related disease)

rs2231142 — ABCG2 Q141K

Chromosome 4 Risk Allele T Category Pharmacogenomics Drug Metabolism, Statins, Cardiovascular, Gout

Reduces ABCG2 transporter function affecting rosuvastatin levels and uric acid excretion, increasing risk for statin side effects and gout

rs2651899 — PRDM16

Chromosome 1 Risk Allele C Category Fat Storage & Energy Fat Metabolism, Thermogenesis, Cardiovascular, Blood Pressure, B Vitamins, Obesity

Intronic variant in the master regulator of brown/beige fat differentiation, GWAS-validated for migraine risk and linked to impaired thermogenesis and blood pressure regulation

rs2854116 — APOC3 T-455C

Chromosome 11 Risk Allele C Category Triglycerides & Fatty Acids Triglycerides, Fat Metabolism, Cardiovascular, Diet, Cholesterol

APOC3 promoter variant that disrupts insulin suppression of ApoC-III, raising plasma triglycerides and NAFLD risk