Research — GeneOps

rs2531693353 — HSD17B4 c.715-1G>A (splice acceptor)

Chromosome 5 Risk Allele A Category Metabolic Enzymes & Rare Disorders Carrier Status, Fat Metabolism, Neurological Risk, Hearing Loss, Ovarian Reserve, Genetic Counseling

Rare splice acceptor variant disrupting intron 9 of D-bifunctional protein; biallelic carriers develop peroxisomal fatty acid oxidation failure causing either severe neonatal DBP deficiency or Perrault syndrome; heterozygous carriers are clinically unaffected but carry reproductive risk

rs25531 — SLC6A4 A>G

Chromosome 17 Risk Allele C Category Mood & Behavior Mental Health, Neurotransmitters, Antidepressants, Mood, Anxiety, Pharmacogenomics

Promoter SNP near 5-HTTLPR that modifies serotonin transporter expression and antidepressant response

rs28940580 — MEFV M680I

Chromosome 16 Risk Allele G Category TNF, NF-kB & Inflammatory Cytokines Innate Immunity, Inflammation, Autoimmune, Ancestry-Specific, Amyloidosis, Carrier Status

Exon 10 missense variant in the inflammasome regulator pyrin; one of five founder FMF mutations at codon 680 — a severity hotspot alongside codon 694. M680I homozygotes develop moderate-to-severe FMF, and M680I/M694V compound heterozygotes can have severe, colchicine- resistant disease comparable to M694V homozygosity.

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)