Research — GeneOps

rs2251780 — GSR

Chromosome 8 Risk Allele A Category Vitamins & Nutrient Absorption Antioxidants, Oxidative Stress, B Vitamins, Glutathione, Hearing Loss, Sensorineural, Glutathione Cycle, NRF2 Target

Intronic variant in the glutathione reductase gene affecting antioxidant defense; the minor A allele has been associated with poorer recovery after sudden sensorineural hearing loss treated with corticosteroids, consistent with impaired cochlear oxidative stress clearance

rs2275913 — IL17A -197G>A

Chromosome 6 Risk Allele A Category TNF, NF-kB & Inflammatory Cytokines Immune & Gut, Immune & Autoimmune, Inflammation, Autoimmune, Vitamin D, Omega-3

Promoter variant in the NFAT binding site that increases IL-17A transcription, elevating Th17-driven inflammation and autoimmune disease risk

rs2303369 — FNDC4

Chromosome 2 Risk Allele T Category Fertility & Ovarian Function Ovarian Reserve, Menopause, Fertility, Reproductive Health, Hormones, DNA Repair

Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chromosome 2; the T allele is associated with earlier age at natural menopause and increased risk of primary ovarian insufficiency through disruption of follicular granulosa cell signaling.

rs231775 — CTLA4 Thr17Ala

Chromosome 2 Risk Allele G Category Autoimmune Tolerance & T-Cell Regulation Immune & Autoimmune, Autoimmune, Thyroid, Type 1 Diabetes, Lupus, Inflammation

Missense variant in the CTLA-4 leader peptide that reduces surface expression of this immune checkpoint receptor, increasing T cell activity and autoimmune disease risk

rs27044 — ERAP1 Gln730Glu

Chromosome 5 Risk Allele G Category Psoriasis & Spondyloarthropathy Immune System, Autoimmune, Inflammation, Arthritis, MHC Antigen Presentation, Psoriasis

Missense variant in the ERAP1 C-terminal regulatory domain modulating peptide trimming length-selectivity; Gln730 (G allele, risk) is part of hyperactive ERAP1 haplotypes that over-trim peptides for HLA class I presentation, increasing ankylosing spondylitis susceptibility in HLA-B27 carriers

rs28647808 — ADAMTS13 Pro618Ala

Chromosome 9 Risk Allele G Category Von Willebrand & Anticoagulant Proteins Thrombosis, Cardiovascular, Blood Clotting, Diabetes, Kidney Disease, Heart Disease, Thrombophilia

Missense variant in the spacer domain of ADAMTS13 that reduces VWF-cleaving protease activity and, in type 2 diabetics, increases renal and cardiovascular complication risk with preferential benefit from ACE inhibitor therapy

rs2883929 — NR3C2 NR3C2 I3 intron variant

Chromosome 4 Risk Allele G Category Reproductive Hormones Reproductive Health, Fertility, Stress Response, Blood Pressure, Hormones, Women's Health

Intronic variant in the mineralocorticoid receptor gene associated with altered receptor signaling and modestly elevated risk of spontaneous preterm birth; the minor G allele shows protective effects are reduced compared to the common A allele

rs2976388 — PSCA PSCA bladder urothelial variant

Chromosome 8 Risk Allele G Category Innate Immunity & Infection Defense Infection Risk, Innate Immunity, Bladder Cancer, Women's Health, Immune Defense, Gut Health

Intronic PSCA variant that tags a regulatory region active in bladder urothelium; the G allele is associated with increased UTI frequency in women and with peptic ulcer disease susceptibility

rs3131379 — MSH5

Chromosome 6 Risk Allele A Category Interferon Signaling & Systemic Autoimmune Immune & Autoimmune, Lupus, Interferon, Autoimmune, Inflammation, Connective Tissue

Intronic variant in the HLA class III region near MSH5 associated with lupus susceptibility, IFN-α regulation, and epistatic interactions with IRF5 and CTLA4

rs35318931 — SRPX Ser413Phe

Chromosome X Risk Allele A Category Skin & Eyes Skin & Eyes, Connective Tissue, Extracellular Matrix, Collagen

X-linked extracellular matrix variant affecting skin connective tissue integrity and stretch mark susceptibility