Research — GeneOps

rs1064608 — MTCH2 Pro290Ala

Chromosome 11 Risk Allele C Category Hormones & Sleep Sleep, Mitochondria, Obesity, Energy Metabolism, Metabolic, Cardiovascular

Missense variant in MTCH2 that reduces mitochondrial metabolic efficiency, increasing risk for obesity and sleep disruption through impaired energy substrate switching

rs1064793917 — SERPING1

Chromosome 11 Risk Allele D Category B-Cell Immunity & Antibody-Mediated Disease Complement System, Complement, Autoimmune, Inflammation, Genetic Counseling, Innate Immunity, Hereditary Angioedema

Frameshift deletion in SERPING1 (p.Lys390fs) abolishing C1-inhibitor production — causes hereditary angioedema Type I with recurrent life-threatening swelling attacks via uncontrolled bradykinin release

rs10773771 — PIWIL1 PIWIL1 3'UTR C>T

Chromosome 12 Risk Allele C Category Fertility & Ovarian Function Fertility, Ovarian Reserve, Cancer Risk, Genomic Stability, Women's Health, Reproductive Health

A 3' UTR variant in PIWIL1 that alters miRNA binding to the transcript and modifies PIWIL1 expression; the T allele is associated with decreased epithelial ovarian cancer susceptibility in southern Chinese women, consistent with PIWIL1's role in piRNA-mediated genome stability in ovarian follicular cells

rs10794648 — IFNLR1/GRHL3

Chromosome 1 Risk Allele C Category Interferon Signaling & Systemic Autoimmune Autoimmune, Psoriasis, Skin Health, Interferon, Innate Immunity, Skin

Intergenic regulatory variant near IFNLR1 that contacts GRHL3 via chromatin looping in keratinocytes — the C (risk) allele is associated with psoriasis susceptibility, linking type III interferon receptor signaling and epidermal barrier transcription factor control at the same locus

rs10984447 — DBC1 DBC1 multiple sclerosis susceptibility variant

Chromosome 9 Risk Allele A Category TNF, NF-kB & Inflammatory Cytokines Multiple Sclerosis, Autoimmune, Immune & Autoimmune, Inflammation, Neuroinflammation, Neurological Risk

Intronic variant in DBC1 (DBCCR1/BRINP1) at 9q33.1 associated with multiple sclerosis susceptibility; the common A allele increases MS risk, while the minor G allele is protective

rs11057830 — SCARB1

Chromosome 12 Risk Allele G Category Cholesterol & Lipoproteins Vitamin E, Vitamins, Fat Metabolism, Antioxidants, Cardiovascular, HDL Cholesterol

Intronic variant in SCARB1 that affects SR-BI receptor function and the intestinal and hepatic uptake of fat-soluble vitamin E (alpha-tocopherol) and carotenoids from HDL particles

rs11265611 — IL6R

Chromosome 1 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Arrhythmia, Inflammation, Cardiovascular, Heart Disease

Intronic IL6R variant in LD with the IL-6 receptor signaling locus; G allele associates with higher IL-6 pathway activity, elevated CRP, and increased atrial fibrillation risk

rs1148259 — ANKRD30A

Chromosome 10 Risk Allele C Category Metabolic Enzymes & Rare Disorders Micronutrients, Lipid Metabolism, Metabolic, Cardiovascular, Cholesterol

Synonymous variant in the 3′ UTR of ANKRD30A associated with altered circulating sphingolipid levels in a metabolomics genome-wide association study

rs1155563 — GC

Chromosome 4 Risk Allele C Category Vitamin D Metabolism Vitamin D, Bone Health, Micronutrients, Diet, Mineral Metabolism

Third independent intronic tag SNP in the vitamin D binding protein gene, influencing circulating 25-hydroxyvitamin D levels and supplementation response

rs116098458 — KIF2B

Chromosome 17 Risk Allele T Category Gamete Quality & DNA Repair Fertility, Ovarian Reserve, Reproductive Health, Menopause, Apoptosis, Women's Health

Rare intronic variant in a lncRNA antisense to KIF2B (chromosome 17q22), identified in the Ruth et al. 2021 Nature GWAS as associated with age at natural menopause; KIF2B encodes a kinesin-13 microtubule depolymerase essential for bipolar spindle assembly during oocyte meiosis