Research — GeneOps

rs121918476 — PROS1 Arg561Trp

Chromosome 3 Risk Allele A Category Von Willebrand & Anticoagulant Proteins Thrombophilia, Blood Clotting, Cardiovascular, Blood Thinners, Thrombosis

Pathogenic PROS1 missense variant in the SHBG-like domain that impairs protein S secretion; heterozygotes have reduced protein S activity and a substantially elevated risk of venous thromboembolism requiring specialist evaluation

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

rs12402521 — PDC

Chromosome 1 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Blood Pressure, Hypertension, Stress Response, Cardiovascular, Heart Disease

Intronic PDC variant in the phosducin gene — G homozygotes show 12–15 mmHg higher blood pressure than A-allele carriers due to reduced sympathetic dampening.

rs12470652 — LHCGR Asn291Ser (N291S)

Chromosome 2 Risk Allele C Category Fertility & Ovarian Function Reproductive Health, Hormones, Fertility, IVF, Ovarian Reserve, Gonadotropins

Missense variant in the LH/hCG receptor producing a gain-of-function increase in receptor sensitivity, influencing ovarian stimulation response, IVF outcomes, and gonadotropin-dependent signaling

rs1250248 — FN1

Chromosome 2 Risk Allele A Category Endometriosis & Uterine Health Endometriosis, Fertility, Reproductive Health, Extracellular Matrix, Inflammation, Women's Health

Intronic variant in the fibronectin 1 gene associated with increased susceptibility to endometriosis, particularly moderate-to-severe disease; the A allele may influence transcription factor binding and FN1 expression, altering extracellular matrix remodeling in ectopic endometrial implants

rs1256335 — ALPL

Chromosome 1 Risk Allele G Category Vitamins & Nutrient Absorption B Vitamins, Methylation, Cardiovascular, Diet, Inflammation

Intronic variant near ALPL associated with increased alkaline phosphatase activity, lowering circulating PLP (the active form of vitamin B6) — those with two G copies have higher ALPL activity and lower plasma B6 levels

rs12606138 — NEDD4L

Chromosome 18 Risk Allele A Category Blood Pressure & Hypertension Brain Health, Cognition, Blood Pressure, Hypertension, Salt Sensitivity, Kidney Function

Intronic variant in NEDD4L associated with reading ability and dyslexia susceptibility

rs12720270 — TYK2 TYK2 Intron 7 Splicing Variant

Chromosome 19 Risk Allele G Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, Interferon, Lupus, JAK-STAT Signaling, Inflammation, Type 1 Diabetes

An intronic variant in TYK2 intron 7 that promotes exon 8 inclusion in the mature TYK2 transcript, enhancing TYK2 receptor-binding capacity and conferring protection against SLE in Caucasian populations; acts through the same exon 8 splicing mechanism as the co-associated rs2304256 (V362F) variant

rs12917707 — UMOD

Chromosome 16 Risk Allele G Category Uric Acid & Kidney Function Kidney Function, Hypertension, Cardiovascular, Kidney Stones, Salt Sensitivity

Uromodulin promoter variant — strongest GWAS signal for chronic kidney disease risk, affecting salt handling and blood pressure via NKCC2

rs13190932 — TRAF3IP2 R74W

Chromosome 6 Risk Allele A Category Psoriasis & Spondyloarthropathy Immune & Gut, Autoimmune, Inflammation, Psoriasis, Arthritis, Biologic Therapy

Missense variant in the IL-17 adaptor Act1 (Arg74Trp) that is the primary GWAS hit for psoriatic arthritis at the TRAF3IP2 locus (OR=1.83, P=8.56×10⁻¹⁷); in strong LD with the functional D10N variant but appears to tag a partially overlapping, PsA-enriched haplotype