Research — GeneOps

rs30021 — SNX24 VEGFA Vascular Growth Co-variant

Chromosome 5 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Angiogenesis, Cardiovascular, Heart Disease, Inflammation, Blood Clotting, Endothelial Health, Thrombophilia

Intronic variant in SNX24 (sorting nexin 24) with roles in vascular endothelial inflammation and platelet alpha-granule biogenesis, including VWF and P-selectin trafficking; G allele is minor and may reduce SNX24 expression efficiency in endothelial and megakaryocyte lineages

rs3134883 — IL2RA

Chromosome 10 Risk Allele A Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, Immune & Autoimmune, Inflammation, Rheumatoid Arthritis, Type 1 Diabetes, Vitamin D

Intronic IL2RA variant independently associated with rheumatoid arthritis risk and part of the IL-2 receptor locus haplotype architecture modulating Treg-driven immune tolerance

rs36211723 — MYBPC3 Asp770Asn (c.2308G>A)

Chromosome 11 Risk Allele T Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Genetic Counseling, RNA Splicing, Carrier Status, Congenital

Rare pathogenic missense variant at the last nucleotide of MYBPC3 exon 23, causing aberrant splicing and haploinsufficiency; strongly associated with hypertrophic cardiomyopathy (autosomal dominant)

rs369296618 — MMAB

Chromosome 12 Risk Allele A Category Vitamins & Nutrient Absorption Vitamin B12, Carrier Status, B Vitamins, Methylation, Genetic Counseling, Metabolic

Nonsense variant in MMAB creating a premature stop codon (Q234*) that impairs adenosylcobalamin synthesis; pathogenic for methylmalonic aciduria cblB type in biallelic state; heterozygous carriers are asymptomatic.

rs3764880 — TLR8 A1G

Chromosome X Risk Allele G Category Innate Immunity & Infection Defense Immune System, Inflammation, Infectious Disease, Innate Immunity, Infection Risk

X-linked initiator codon variant in TLR8 that fine-tunes the ratio of two TLR8 protein isoforms, producing sex-specific effects on innate immune responses to RNA viruses and mycobacteria

rs3805435 — TNIP1

Chromosome 5 Risk Allele T Category Psoriasis & Spondyloarthropathy Autoimmune, Inflammation, Psoriasis, Skin, Anti-TNF Biologics, Oxidative Stress

Intronic variant in the GPX3/TNIP1 regulatory locus on chromosome 5; the C allele is protective against generalized pustular psoriasis (OR≈0.61 per C allele) by tagging a haplotype associated with maintained ABIN-1/NF-κB regulatory capacity

rs3827103 — MC3R

Chromosome 20 Risk Allele A Category Appetite & Obesity Fat Metabolism, Obesity, Insulin, Diet, Lean Mass

Common MC3R missense variant that reduces receptor expression and shifts nutrient partitioning toward fat storage, particularly when co-inherited with the Thr6Lys variant (rs3746619)

rs41276738 — VWF p.Arg854Gln (R854Q) type 2N

Chromosome 12 Risk Allele T Category Von Willebrand & Anticoagulant Proteins Blood Clotting, Cardiovascular, Carrier Status, Genetic Counseling, Thrombophilia, Fibrinolysis

Missense variant in the VWF D' domain that abolishes high-affinity Factor VIII binding, causing type 2N (Normandy) von Willebrand disease — a recessively-expressed bleeding disorder mimicking mild hemophilia A

rs4762326 — VEZT VEZT Endometriosis Cell Adhesion Variant

Chromosome 12 Risk Allele T Category Endometriosis & Uterine Health Endometriosis, Reproductive Health, Fertility, Extracellular Matrix, Inflammation, Women's Health

Intronic variant in VEZT (vezatin, adherens junction transmembrane protein) on chromosome 12q23.2; the T allele is associated with increased endometriosis risk across multiple large GWAS meta-analyses, with an odds ratio of approximately 1.08 per allele

rs4944653 — PRSS23 PRSS23 Ovarian Serine Protease

Chromosome 11 Risk Allele G Category Fertility & Ovarian Function PCOS, Ovarian Reserve, Fertility, Gonadotropins, Hormones, Reproductive Health

An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chromosome 11q14.2; the G allele is associated with higher serum FSH levels in a dose-responsive pattern (AA 9.0, AG 9.5, GG 10.7 IU/L) and with PCOS susceptibility, reflecting PRSS23's role in granulosa cell survival and follicular atresia