Research — GeneOps

rs2229431 — INSR

Chromosome 19 Risk Allele A Category Blood Sugar & Diabetes Insulin, Insulin Resistance, Diabetes, Mental Health, Brain Health, Metabolic Health

Synonymous exon 13 variant in the insulin receptor gene; the A allele has been associated with schizoaffective disorder and modestly with body height in psychiatric cohort studies

rs2280275 — CYP2J2

Chromosome 1 Risk Allele C Category Pharmacogenomics Pharmacogenomics, Cardiovascular, Blood Pressure, Omega-3, Heart Disease, Ancestry-Specific, Endothelial Health

Intronic variant in CYP2J2 that tags reduced epoxyeicosatrienoic acid (EET) production, lowering the vasodilatory and cardioprotective signaling molecules derived from arachidonic acid

rs2325751 — PNPO

Chromosome 17 Risk Allele G Category Hormones & Sleep Sleep, Neurotransmitters, B Vitamins, Homocysteine, Neurological Risk, Serotonin

Regulatory variant 2 kb upstream of PNPO that may alter expression of the vitamin B6-activating enzyme; the G allele shows the strongest single-SNP association with schizophrenia among PNPO variants in a Japanese population study, implicating impaired PLP production in psychiatric risk

rs2920502 — PPARG PPARG rs2920502

Chromosome 3 Risk Allele C Category Fat Storage & Energy Adipogenesis, Diabetes, Insulin Resistance, Metabolic, Fat Distribution, Obesity

Intronic PPARG variant associated with body fat percentage, impaired glucose tolerance, and metabolic syndrome risk

rs2954021 — TRIB1

Chromosome 8 Risk Allele G Category Triglycerides & Fatty Acids Triglycerides, Cardiovascular, Cholesterol, Fat Metabolism, Diet

Near-gene variant influencing hepatic lipid metabolism; G allele raises triglycerides and LDL while A allele increases liver enzyme levels and fatty liver risk

rs350845 — SIRT6

Chromosome 19 Risk Allele G Category Longevity & Aging Longevity, Aging, Telomere Biology, DNA Repair, Inflammation

Intronic eQTL in SIRT6 where the rare A allele upregulates SIRT6 expression across 18 tissue types and is enriched in Ashkenazi Jewish centenarians, linking higher SIRT6 activity to improved genomic stability and longevity

rs41309766 — NOTCH1 c.4512del (p.Cys1505fs)

Chromosome 9 Risk Allele D Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Congenital, Genetic Counseling, Angiogenesis, Calcium

Pathogenic frameshift deletion in NOTCH1 causing haploinsufficiency; carriers face substantially elevated risk of bicuspid aortic valve, progressive aortic valve calcification and stenosis, and thoracic aortic aneurysm through loss of Notch-mediated suppression of osteoblastic calcification

rs4253778 — PPARA intron 7 G/C

Chromosome 22 Risk Allele C Category Fitness & Body Endurance, Exercise, Fat Metabolism, Cardiovascular, Muscle

Regulates fatty acid oxidation and muscle fiber composition, influencing endurance capacity and cardiac adaptation to exercise

rs5743836 — TLR9 Promoter -1237T/C

Chromosome 3 Risk Allele G Category Innate Immunity & Infection Defense Innate Immunity, Infectious Disease, Immune & Gut, Inflammation, Autoimmune, Immune System

TLR9 promoter variant that creates an IL-6-responsive element and estrogen-sensitive transcription site, amplifying innate immune signaling and increasing lymphoma susceptibility while modulating malaria, HCV, and thrombosis outcomes

rs60910145 — APOL1 G1 I384M

Chromosome 22 Risk Allele G Category Cholesterol & Lipoproteins Kidney Disease, Cardiovascular, Inflammation, Infectious Disease, Ancestry

Second component of the APOL1 G1 kidney disease risk haplotype — a missense variant that, together with rs73885319 (S342G), confers 7- to 29-fold increased risk for non-diabetic CKD under a recessive inheritance model in African-ancestry populations