Research — GeneOps

rs941798 Intronic PTPN1 variant tagging a haplotype block associated with reduced insulin sensitivity, higher fasting insulin, and elevated lipids through altered PTP1B expression

Chromosome 20 Risk Allele G Category Blood Sugar & Diabetes Tags Insulin Resistance, Diabetes, Insulin, Fasting Glucose, Leptin, Metabolic Syndrome

Every time you eat, your pancreas releases insulin, which docks onto the insulin receptor on cell surfaces and triggers a cascade that pulls glucose from your blood into cells for energy. PTP1B(https://pubmed.ncbi.nlm.nih.gov/15504984/). It acts as a critical brake on insulin signaling: too much PTP1B activity means...

rs63751287 Pathogenic missense mutation in PSEN1 (presenilin-1) causing autosomal dominant familial early-onset Alzheimer's disease with exceptionally early symptom onset, typically in the mid-to-late twenties

Chromosome 14 Risk Allele G Category Neurology & Cognition Tags Alzheimer's, Neurological Risk, Neurodegeneration, Dementia, Genetic Counseling, Brain Health

Presenilin-1(https://www.ncbi.nlm.nih.gov/gene/5663) mutations account for the largest share of familial early-onset Alzheimer's disease (EOFAD), with over 300 pathogenic variants identified across the gene. The M233V substitution is among the most severe — documented cases develop cognitive symptoms as early as age...

rs671 Alcohol metabolism - flush reaction and cancer risk

Chromosome 12 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Diet, Detoxification

ALDH2 (aldehyde dehydrogenase 2) is the mitochondrial enzyme responsible for converting acetaldehyde to acetate during alcohol metabolism. Acetaldehyde is the toxic intermediate that causes many of the unpleasant effects of excessive drinking. The ALDH22 variant (rs671) is one of the most clinically significant...

rs6967330 Missense variant in the rhinovirus-C receptor CDHR3 that increases cell-surface receptor expression and viral binding ~10-fold, elevating risk of rhinovirus-C respiratory infections and childhood asthma exacerbations

Chromosome 7 Risk Allele A Category Allergy & Atopic Disease Tags Innate Immunity, Infectious Disease, Immune & Antiviral, Asthma, Respiratory Infections, Lung Health

CDHR3 (cadherin-related family member 3)(https://www.ncbi.nlm.nih.gov/gene/222256) is not just a structural protein — it is the receptor that rhinovirus-C (RV-C) uses to enter respiratory cells. RV-C is the most clinically severe of the three rhinovirus species, disproportionately responsible for childhood asthma...

rs638405 Synonymous variant in BACE1 (beta-secretase 1) linked to modestly elevated Alzheimer's disease risk, particularly in APOE4 carriers; may affect mRNA processing or expression rather than protein sequence.

Chromosome 11 Risk Allele G Category Neurology & Cognition Tags Alzheimer's, Neurodegeneration, Cognition, Brain Health, Dementia, Cognitive Decline

BACE1(https://www.ncbi.nlm.nih.gov/gene/23621) is the enzyme that makes the first cut in amyloid precursor protein (APP), initiating the amyloidogenic cascade that produces amyloid-beta peptides. Without BACE1 activity, amyloid plaques — the pathological hallmark of Alzheimer's disease — cannot form. This makes...

rs67376798 Decreased-function variant reducing DPD enzyme activity ~30%, requiring 50% fluoropyrimidine dose reduction

Chromosome 1 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Chemotherapy, Cancer Treatment, Fluoropyrimidine Toxicity, Pyrimidine Catabolism

The DPYD gene encodes dihydropyrimidine dehydrogenase (DPD), the rate-limiting enzyme responsible for metabolizing 80-90% of fluoropyrimidine chemotherapy drugs(https://pubmed.ncbi.nlm.nih.gov/29152729/) The D949V variant (c.2846AT) is one of four decreased-function DPYD variants recommended for mandatory...

rs7125552 Intronic EMSY variant that defines the high-risk haplotype at 11q13.5; the G allele is required for the rs7927894 T risk allele to exert its effect on atopic dermatitis and allergic rhinitis — without G at rs7125552, the rs7927894 T risk effect is abolished

Chromosome 11 Risk Allele G Category Allergy & Atopic Disease Tags Asthma, Skin, Inflammation, Immune & Autoimmune, Epigenetics, Skin Health

The well-known rs7927894 T allele at chromosome 11q13.5 is one of the most replicated atopic dermatitis susceptibility signals in the human genome — but the full story of this locus requires a second variant. Ponińska et al. (2017)(https://pubmed.ncbi.nlm.nih.gov/28886043/) showed that the risk conferred by...

rs6439886 Intronic variant in the calsyntenin-2 gene associated with episodic memory performance and hippocampal inhibitory circuit function

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

In 2006, the first genome-wide association study of episodic memory in healthy adults identified two genes linked to how well people remember verbal information. The first, KIBRA, became famous. The second, CLSTN2(https://omim.org/entry/611323), received less attention — but has since accumulated its own evidence...

rs67784355 Rare missense variant in CYP3A4 that reduces protein expression and enzymatic activity across multiple drug substrates

Chromosome 7 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Phase I, Cancer Treatment, Cardiovascular

CYP3A4 is the dominant drug-metabolizing enzyme in the human liver and intestine, processing approximately half of all prescription medications(https://pubmed.ncbi.nlm.nih.gov/12814972/). The CYP3A411 allele, defined by rs67784355 (c.1088CT on the coding strand; p.Thr363Met), is one of the rarest functionally...

rs7130588 Regulatory variant near LRRC32 (GARP) on chromosome 11q13.5; the G allele increases LRRC32 expression and is associated with elevated risk of atopic asthma, atopic dermatitis, and the eczema-to-asthma progression (atopic march)

Chromosome 11 Risk Allele G Category Allergy & Atopic Disease Tags Asthma, Autoimmune, T-Cell Regulation, Inflammation, Immune & Autoimmune, Skin Health

On chromosome 11q13.5 sits a stretch of regulatory DNA that, in people carrying the G allele at rs7130588, subtly tips the balance of the immune system toward allergic reactivity. The gene controlled by this region, LRRC32, encodes GARP (Glycoprotein A Repetitions...