rs7412

A SNP in the APOE gene on chromosome 19. Its most notable genotype is C;C: part of APOE4 genoset evaluation

Gene
APOE
Location
Chr 1944,908,822 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
7%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratedpart of APOE4 genoset evaluationMinor · 1.087% of people
  2. C;TNot ratedpart of APOE4 genoset evaluationMinor · 1.013% of people
  3. T;TNot ratedpart of APOE4 genoset evaluationMinor · 1.0<1% of people

On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 10 HapMap populations.

  • AverageC;C 87% C;T 13% T;T <1%
  • Han Chinese (Beijing)C;C 82% C;T 18% T;T 0%
  • Japanese (Tokyo)C;C 89% C;T 11% T;T 0%
  • Yoruba (Nigeria)C;C 83% C;T 17% T;T 0%
  • African ancestry (Southwest US)C;C 79% C;T 20% T;T 2%
  • Chinese (Denver)C;C 86% C;T 14% T;T 0%
  • Gujarati IndianC;C 92% C;T 7% T;T 1%
  • Luhya (Kenya)C;C 90% C;T 10% T;T 0%
  • Mexican ancestry (Los Angeles)C;C 89% C;T 11% T;T 0%
  • Maasai (Kenya)C;C 88% C;T 12% T;T 0%
  • TuscanC;C 91% C;T 9% T;T 0%

Notes

From SNPedia

Show notes, about 1,040 words

The ancestral allele is C. The rs7412(T) allele, also known as Arg176Cys, generally indicates the presence of an Apo&#949;2 allele; see the ApoE page for a full discussion of the ApoE alleles and their association with Alzheimer's disease. Another SNP related to ApoE is rs429358. Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis. Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes. Variation at APOE and STH loci and Alzheimer's disease. Variation in GYS1 interacts with exercise and gender to predict cardiovascular mortality. Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: patterns of linkage disequilibrium and disease/marker association. Association of ApoE genetic variants with obstructive sleep apnea in children. Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. Lack of replication of genetic associations with human longevity. Genetic determinants of basal C-reactive protein expression in Filipino systemic lupus erythematosus families. Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat. Low-density lipoprotein and high-density lipoprotein cholesterol levels in relation to genetic polymorphisms and menopausal status: the Atherosclerosis Risk in Communities (ARIC) Study. APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels. New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background. Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. Gender differences in genetic risk profiles for cardiovascular disease. Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE. Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: implication of additional loci. Application of two machine learning algorithms to genetic association studies in the presence of covariates. A polymorphism of apolipoprotein E (APOE) gene is associated with age at natural menopause in Caucasian females. Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients. GAB2 gene does not modify the risk of Alzheimer's disease in Spanish APOE 4 carriers. Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach. Genetic determinants of target and novelty-related event-related potentials in the auditory oddball response. Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample. Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. Association between apolipoprotein E genotype, serum lipids, and colorectal cancer in Brazilian individuals. Apolipoprotein-E gene variants associated with cardiovascular risk factors in antipsychotic recipients. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. A simple and efficient algorithm for genome-wide homozygosity analysis in disease. Introduction to the DISRUPT postprandial database: subjects, studies and methodologies. Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease. Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics Study. Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women. Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans. Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. A susceptible haplotype within APOE gene influences BMD and intensifies the osteoporosis risk in postmenopausal women of Northwest India. A pilot study of gene/gene and gene/environment interactions in Alzheimer disease. Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study. IQ, educational attainment, memory and plasma lipids: associations with apolipoprotein E genotype in 5995 children. Low-density lipoprotein cholesterol and the risk of cancer: a mendelian randomization study. Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment. Association study between apolipoprotein E gene polymorphism and diabetic nephropathy in a Taiwanese population. APOE haplotypes are associated with human longevity in a Central Italy population: evidence for epistasis with HP 1/2 polymorphism.

Source and license

Adapted from rs7412 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.