Research — GeneOps

rs2731672 — F12

Chromosome 5 Risk Allele C Category Coagulation & Clotting Factors Thrombosis, Cardiovascular, Blood Clotting, Heart Disease, Inflammation, Fibrinolysis, Thrombophilia

Regulatory tag variant in the Factor XII locus associated with plasma FXII activity levels and aPTT; the T allele tags lower Factor XII expression, which is paradoxically protective against arterial and venous thrombosis

rs28777 — SLC45A2

Chromosome 5 Risk Allele A Category Skin & Eyes Pigmentation, Melanoma Risk, Sun Sensitivity, Skin Cancer, UV Protection

Intronic pigmentation variant in SLC45A2 strongly associated with skin color, hair color, and tanning ability; the light-pigmentation allele increases sun sensitivity and melanoma risk

rs3024491 — IL10 Intronic variant

Chromosome 1 Risk Allele A Category Interferon Signaling & Systemic Autoimmune Inflammation, Immune & Autoimmune, Gut Health, Autoimmune

Intronic IL10 variant that reduces anti-inflammatory cytokine production, independently raising susceptibility to gut inflammation, H. pylori infection, and asthma severity

rs34557412 — TNFRSF13B TACI C104R

Chromosome 17 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease B-Cell Signaling, Innate Immunity, Infection Risk, Autoimmunity, Immune System, Immune Response

Missense variant in the TACI receptor's cysteine-rich ligand-binding domain that dominantly disrupts BAFF/APRIL signaling; the strongest non-HLA association with infection susceptibility and a known cause of common variable immunodeficiency and IgA deficiency

rs34612342 — MUTYH Y179C

Chromosome 1 Risk Allele C Category Cancer Risk Cancer Risk, DNA Repair, Base Excision Repair, Colorectal Cancer, Carrier Status

Most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associated Polyposis with ~28-fold increased colorectal cancer risk, while heterozygous carriers have a modest CRC risk elevation (OR ~1.3)

rs3733590 — SLC2A9

Chromosome 4 Risk Allele C Category Uric Acid & Kidney Function Uric Acid, Gout, Diet, Kidney Function, Cardiovascular

Intronic SLC2A9 variant tagging the GLUT9 urate-transport locus; the C allele is markedly enriched in East Asian populations (~41%) compared to Europeans (~5%) and may influence SLC2A9 splicing, modestly elevating serum uric acid and gout risk via linkage with the broader SLC2A9 risk haplotype

rs3754777 — STK39

Chromosome 2 Risk Allele T Category Blood Pressure & Hypertension Hypertension, Blood Pressure, Kidney Function, Cardiovascular, Salt Sensitivity

Intronic STK39 variant that increases SPAK kinase expression, enhancing phosphorylation of renal sodium cotransporters NCC and NKCC2 and raising blood pressure through excess sodium reabsorption.

rs397508075 — KCNQ1 KCNQ1 Long QT Type 1 Variant 3

Chromosome 11 Risk Allele T Category Arrhythmia & Heart Rhythm Arrhythmia, Cardiovascular, Heart Disease, Genetic Counseling, Congenital

Pathogenic nonsense variant (Q359X) in KCNQ1 that truncates the IKs potassium channel, causing Long QT syndrome type 1 with markedly increased risk of life-threatening arrhythmias during exercise and emotional stress

rs505151 — PCSK9 E670G

Chromosome 1 Risk Allele G Category Atherogenic Lipoproteins Cardiovascular, Cholesterol, LDL Cholesterol, Lipid Metabolism, Statins

Common missense variant in PCSK9 exon 12 where the rare G allele raises LDL cholesterol and increases coronary artery disease risk through enhanced LDLR degradation

rs563694 — ABCB11 G6PC2/ABCB11 fasting glucose locus

Chromosome 2 Risk Allele A Category Liver Fat Insulin, Metabolic, Diabetes, Liver, Fat Metabolism, Metabolic Health, Fasting Glucose, Pancreatic Beta Cell

Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regulatory SNPs; the A allele tags higher G6PC2 expression in pancreatic beta cells, elevating the fasting blood glucose set-point by ~0.065 mmol/L per allele