Research — GeneOps

rs907091 — IKZF3 IKZF3 miRNA Binding Region Variant

Chromosome 17 Risk Allele T Category Allergy & Atopic Disease Autoimmune, B-Cell Signaling, Immune System, Lupus, Rheumatoid Arthritis, Inflammation

A 3'UTR variant in IKZF3 that alters miR-326 binding affinity, reducing Aiolos transcription factor expression in a T-allele-dependent manner and increasing susceptibility to systemic autoimmune disease through impaired B-cell maturation and immune homeostasis

rs63749911 — PSEN1 F177L

Chromosome 14 Risk Allele C Category Neurology & Cognition Alzheimer's, Neurodegeneration, Dementia, Genetic Counseling, Cognitive Decline, Amyloidosis

Rare pathogenic PSEN1 missense variant substituting leucine for phenylalanine at position 177 in the gamma-secretase catalytic subunit; elevates Aβ42/Aβ40 ratio with relatively preserved total cleavage activity, classified as pathogenic for early-onset familial Alzheimer's disease

rs776746 — CYP3A5 *3

Chromosome 7 Risk Allele C Category Pharmacogenomics Drug Metabolism, Immunosuppressants, Pharmacogenomics, Transplant

Splice site variant creating a non-functional CYP3A5 enzyme, dramatically affecting metabolism of tacrolimus and other immunosuppressants

rs911263 — RAD51B RAD51B RA Proxy Variant

Chromosome 14 Risk Allele T Category Allergy & Atopic Disease Rheumatoid Arthritis, Arthritis, Autoimmune, DNA Repair, Immune & Autoimmune, Inflammation

Intronic proxy variant in RAD51B associated with seropositive rheumatoid arthritis risk; the C allele is protective while the T allele tags a haplotype at the RAD51B locus that predisposes to anti-CCP-positive RA and more severe joint erosion

rs63750066 — APP A713T (Calabrian)

Chromosome 21 Risk Allele T Category Neurology & Cognition Alzheimer's, Neurological Risk, Neurodegeneration, Amyloidosis, Genetic Counseling, Cardiovascular

Rare pathogenic missense variant in APP at the gamma-secretase cleavage site causing familial early-onset Alzheimer's disease with cerebral amyloid angiopathy; the "Calabrian" founder mutation originating in southern Italy over 1,000 years ago

rs8099917 — IFNL3

Chromosome 19 Risk Allele G Category Pharmacogenomics Innate Immunity, Inflammation, Infectious Disease, Interferon, Immune & Autoimmune, Drug Metabolism

Intergenic variant upstream of IFNL3 — second major IL28B locus predictor of hepatitis C spontaneous clearance and treatment response, with independent predictive value over rs12979860 in Asian populations

rs9275596 — HLA-DQ HLA-DQ Region Peanut Allergy Locus

Chromosome 6 Risk Allele C Category Allergy & Atopic Disease Autoimmune, HLA, Food Sensitivity, Immune Response, Inflammation

Intergenic tag SNP between HLA-DQB1 and HLA-DQA2 tagging the HLA-DQA1*01:02 risk haplotype; the C allele confers ~1.7-fold increased susceptibility to peanut allergy and is associated with multiple sclerosis risk

rs63751122 — APP L723P (Australian)

Chromosome 21 Risk Allele G Category Neurology & Cognition Alzheimer's, Neurological Risk, Neurodegeneration, Amyloidosis, Genetic Counseling, Dementia

Rare pathogenic missense variant in APP near the gamma-secretase cleavage site causing autosomal dominant early-onset familial Alzheimer's disease; the "Australian" mutation first identified in an early-onset kindred, increasing amyloid-beta42/43 production 1.4- to 1.9-fold

rs8192780 — CYP2E1

Chromosome 10 Risk Allele T Category Pharmacogenomics Pharmacogenomics, Drug Metabolism, Carcinogen Metabolism, Cancer Risk, Liver, Smoking Related

Downstream regulatory variant near CYP2E1 associated with nasopharyngeal carcinoma risk in smokers through altered carcinogen metabolism

rs6439886 — CLSTN2

Chromosome 3 Risk Allele A Category Neurology & Cognition Memory, Cognition, Brain Health, Neuroplasticity, Cognitive Decline

Intronic variant in the calsyntenin-2 gene associated with episodic memory performance and hippocampal inhibitory circuit function