Research — GeneOps

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

rs324013 — STAT6

Chromosome 12 Risk Allele T Category Allergy & Atopic Disease JAK-STAT Signaling, Inflammation, Autoimmune, Asthma, Skin Health, T-Cell Regulation

Promoter variant in STAT6 that alters transcription factor binding; the T allele is associated with reduced IFN-γ production in response to herpes simplex virus, forming a 6.87-kb haplotype with rs167769 that confers a 3.3-fold increased risk of eczema herpeticum in atopic dermatitis patients through enhanced Th2 signaling

rs4851266 — AFF3

Chromosome 2 Risk Allele T Category Neurology & Cognition Cognition, Brain Health, Neuroplasticity, Omega-3, Memory

Intronic variant in the super elongation complex gene AFF3; the T allele increases AFF3 expression and was one of three original genome-wide significant hits for educational attainment (Rietveld 2013), with replication in all subsequent large GWAS

rs4997557 — CYP2A6

Chromosome 19 Risk Allele A Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Smoking Related, Cancer Risk, Lung Cancer

Rare CYP2A6 missense variant (p.Thr294Ile) that likely reduces nicotine-metabolising enzyme activity, affecting smoking behaviour, cessation pharmacotherapy response, and metabolism of letrozole and tegafur

rs61886492 — FOLH1 H475Y

Chromosome 11 Risk Allele G Category Methylation & Detox Methylation, Folate, B Vitamins, Homocysteine, Cardiovascular

Reduces intestinal GCPII enzyme activity by 53%, paradoxically raising circulating folate and lowering homocysteine by slowing folate catabolism in the gut

rs653178 — SH2B3 ATXN2/SH2B3 12q24 pleiotropic locus

Chromosome 12 Risk Allele C Category Blood Sugar & Diabetes Diabetes, Insulin Resistance, Blood Pressure, Cardiovascular, Autoimmune, Inflammation

Pleiotropic 12q24 locus variant in SH2B3 (LNK) modulating JAK-STAT cytokine signaling, with associations spanning blood pressure, type 2 diabetes, celiac disease, and coronary artery disease

rs78534766 — ADCY7 ADCY7 D439E

Chromosome 16 Risk Allele A Category Hormones & Sleep Thyroid, Hormones & Thyroid, Autoimmune, Inflammation, Immune & Autoimmune, Immune Function

Low-frequency missense variant in adenylyl cyclase 7 that reduces cAMP synthesis by 40%, skews immune cells toward a pro-inflammatory Th2 phenotype, and is the strongest non-HLA coding risk factor for ulcerative colitis and autoimmune thyroid disease

rs35699176 — ZNF77 ZNF77 Q100*

Chromosome 19 Risk Allele A Category Allergy & Atopic Disease Lung Health, Asthma, Infection Risk, Immune Defense, Respiratory Infections, Inflammation

Nonsense variant truncating ZNF77 at codon 100, impairing bronchial epithelial barrier integrity and increasing susceptibility to Aspergillus fumigatus airway colonization

rs5030655 — CYP2D6 *6

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

Frameshift deletion causing no enzyme function, defining poor metabolizer status for many drugs including codeine, tramadol, and antidepressants

rs56051278 — GPD2

Chromosome 2 Risk Allele G Category Neurology & Cognition Brain Health, Mitochondria, Energy Metabolism, Digestive Health, Migraine, Insulin

Intronic variant in GPD2 (mitochondrial glycerol-3-phosphate dehydrogenase), second-strongest signal (P=1.5×10⁻²⁹) from the first-ever motion sickness GWAS; the G allele is in high LD with a missense variant that alters GPD2 enzyme activity and is linked to impaired glucose homeostasis during vestibular stress