Research — GeneOps

rs429358 — APOE E4 determinant

Chromosome 19 Risk Allele C Category Cholesterol & Lipoproteins Cholesterol, Cardiovascular, Alzheimer's, Fat Metabolism, Diet

Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high saturated fat

rs4840568 — BLK

Chromosome 8 Risk Allele A Category B-Cell Immunity & Antibody-Mediated Disease Autoimmune, Lupus, Immune System, Immune & Autoimmune, B-Cell Signaling, Thyroid

Regulatory variant 2kb upstream of BLK that tags reduced B-lymphoid tyrosine kinase expression, raising risk for systemic lupus erythematosus and autoimmune thyroid disease, particularly in Asian populations

rs489693 — MC4R MC4R AIWG variant

Chromosome 18 Risk Allele A Category Appetite & Obesity Appetite, Satiety, Obesity, Pharmacogenomics, Metabolic, Metabolic Syndrome

Intergenic variant near MC4R with genome-wide significant association with antipsychotic-induced weight gain, particularly olanzapine and clozapine; also tags the MC4R locus for general BMI effects

rs6259 — SHBG Asp356Asn

Chromosome 17 Risk Allele A Category Reproductive Hormones Steroid Hormones, Hormones, Testosterone, PCOS, Fertility, Metabolic

Missense variant in SHBG exon 8 (p.Asp356Asn, historically Asp327Asn in mature-protein numbering) that adds an N-linked glycosylation site to the C-terminal domain, increasing SHBG serum half-life and circulating SHBG levels; the A allele is associated with higher total SHBG, lower free-androgen index, and a protective effect against metabolic syndrome, but with worse prostate cancer outcomes during androgen deprivation therapy.

rs6511720 — LDLR Intron 1

Chromosome 19 Risk Allele G Category Atherogenic Lipoproteins Cardiovascular, Cholesterol, Statins, Diet, Pharmacogenomics

Common regulatory variant in the LDL receptor gene affecting LDLR expression, baseline LDL cholesterol levels, and statin response

rs660895 — HLA-DRB1

Chromosome 6 Risk Allele G Category Interferon Signaling & Systemic Autoimmune Rheumatoid Arthritis, HLA, Autoimmune, Inflammation, MHC Antigen Presentation, Biologic Therapy, Joints

Regulatory tag SNP in the HLA-DRB1 region; the G allele marks the HLA-DRB1*04:01 shared epitope haplotype, conferring elevated susceptibility to anti-citrullinated protein antibody (ACPA)-positive rheumatoid arthritis and accelerated joint damage progression.

rs77924615 — UMOD PDILT-UMOD regulatory variant

Chromosome 16 Risk Allele G Category Uric Acid & Kidney Function Kidney Disease, Kidney Function, Hypertension, Blood Pressure, Cardiovascular, Chronic Kidney Disease

Intronic regulatory variant physically located in PDILT that controls uromodulin (Tamm-Horsfall protein / UMOD) expression — the strongest genetic predictor of longitudinal kidney function decline in the general population. Catalog gene attribution is UMOD (the regulatory target and clinically relevant gene); physical location is PDILT (adjacent gene in the same LD block).

rs12053868 — IL1RAP IL1RAP amyloid risk variant

Chromosome 3 Risk Allele G Category Neurology & Cognition Alzheimer's, Neuroinflammation, Neurological Risk, Cognitive Decline, Dementia, Inflammation

Intronic variant in IL1RAP that impairs microglial activation, accelerating brain amyloid accumulation and Alzheimer's disease progression independently of APOE status

rs1295685 — IL13

Chromosome 5 Risk Allele A Category Allergy & Atopic Disease Asthma, Inflammation, Autoimmune, Skin Health, T-Cell Regulation, JAK-STAT Signaling

3'-UTR regulatory variant in IL13; the minor A allele co-segregates with the rs20541 Q130 risk haplotype and is associated with elevated serum IgE and increased susceptibility to atopic dermatitis and allergic rhinitis through amplified IL-13 Th2 signaling

rs13266634 — SLC30A8 Arg325Trp (C>T)

Chromosome 8 Risk Allele C Category Blood Sugar & Diabetes Zinc, Insulin, Diabetes, Diet, Cardiovascular

Zinc transporter 8 variant affecting zinc loading into insulin granules, influencing insulin crystallization, secretion, and type 2 diabetes risk