Research — GeneOps

rs12350739 — BNC2 Regulatory variant

Chromosome 9 Risk Allele A Category Skin & Eyes Skin Pigmentation, Freckling, UV Sensitivity, Skin Cancer, Cancer Risk, Sun Sensitivity

Intergenic enhancer variant controlling BNC2 expression in melanocytes; determines pigmentation saturation and freckling tendency with implications for UV sensitivity and skin cancer risk

rs1260326 — GCKR P446L

Chromosome 2 Risk Allele T Category Liver Fat Triglycerides, Fat Metabolism, Insulin, Cardiovascular, Diet, Liver Health

Coding GCKR variant (Pro446Leu) that directly reduces GCKRP sensitivity to fructose-6-phosphate, constitutively activating hepatic glucokinase and producing the characteristic trade-off of lower fasting glucose and insulin resistance against higher triglycerides, CRP, and NAFLD risk

rs12678919 — LPL

Chromosome 8 Risk Allele A Category Triglycerides & Fatty Acids Triglycerides, HDL Cholesterol, Fat Metabolism, Cardiovascular, Lipid Metabolism

Intergenic variant 19 kb downstream of lipoprotein lipase (LPL) that tags a regulatory region affecting LPL expression; the rare G allele is associated with meaningfully lower triglycerides and higher HDL cholesterol.

rs13412535 — SERPINE2

Chromosome 2 Risk Allele A Category Coagulation & Clotting Factors Thrombosis, Blood Clotting, Fibrinolysis, Cardiovascular, Heart Disease, Thrombophilia

Intronic regulatory variant in SERPINE2 that modulates expression of Protease Nexin-1, the most potent tissue thrombin inhibitor, shifting fibrinolytic balance and elevating venous thromboembolism risk

rs137853964 — LDLR Val827Ile / Val827Phe

Chromosome 19 Risk Allele A Category Atherogenic Lipoproteins Cholesterol, LDL Cholesterol, Cardiovascular, Genetic Counseling, Heart Disease, Lipid Metabolism

LDLR missense variant at position 827 within the cytoplasmic NPXY internalization motif; classified as uncertain significance for familial hypercholesterolemia, with conflicting functional and population evidence — the more common G>A change (Val827Ile) shows no LDL uptake impairment in functional assays, while the rarer G>T change (Val827Phe) has been reported in FH patients

rs1635501 — EXO1 EXO1 rs1635501

Chromosome 1 Risk Allele C Category Gamete Quality & DNA Repair Ovarian Reserve, Fertility, Reproductive Health, Menopause, DNA Repair, Mismatch Repair

Intronic variant in EXO1 (exonuclease 1), a DNA mismatch repair and meiotic recombination enzyme; each copy of the C allele is associated with approximately 10 fewer weeks before natural menopause onset, implicating impaired oocyte DNA repair in accelerated follicle depletion

rs16930609 — CYP2R1

Chromosome 11 Risk Allele C Category Vitamin D Metabolism Vitamin D, Bone Health, Diet, Cardiovascular

Upstream regulatory variant in CYP2R1 that tags a haplotype associated with reduced hepatic vitamin D 25-hydroxylation efficiency and lower circulating 25(OH)D levels

rs1799793 — ERCC2 D312N

Chromosome 19 Risk Allele T Category Cancer Risk Cancer Risk, DNA Repair, Cancer Screening, Smoking Interaction

Missense variant in the XPD helicase that reduces nucleotide excision repair fidelity, modestly increasing susceptibility to UV-induced and carcinogen-induced DNA damage across multiple cancer types

rs1805123 — KCNH2 K897T

Chromosome 7 Risk Allele G Category Arrhythmia & Heart Rhythm Arrhythmia, Cardiovascular, Heart Disease, Drug Response, Pharmacogenomics

Common KCNH2 missense variant that alters hERG potassium channel kinetics, shortens cardiac repolarization in homozygotes, and modifies susceptibility to QT-prolonging drugs and arrhythmias

rs198968 — KLK4

Chromosome 19 Risk Allele G Category Dental & Oral Health Dental & Oral Health, Enamel Health, Minerals, Calcium, Inflammation

Intronic variant in kallikrein-related peptidase 4 gene affecting KLK4 expression during enamel maturation and susceptibility to dental caries in primary dentition