rs7412
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 1 | part of APOE4 genoset evaluation |
| (C;T) | 1 | part of APOE4 genoset evaluation |
| (T;T) | 1 | part of APOE4 genoset evaluation |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 44908822 |
| Gene | APOE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7412 |
| dbSNP (classic) | rs7412 |
| ClinGen | rs7412 |
| ebi | rs7412 |
| HLI | rs7412 |
| Exac | rs7412 |
| Gnomad | rs7412 |
| Varsome | rs7412 |
| LitVar | rs7412 |
| Map | rs7412 |
| PheGenI | rs7412 |
| Biobank | rs7412 |
| 1000 genomes | rs7412 |
| hgdp | rs7412 |
| ensembl | rs7412 |
| geneview | rs7412 |
| scholar | rs7412 |
| rs7412 | |
| pharmgkb | rs7412 |
| gwascentral | rs7412 |
| openSNP | rs7412 |
| 23andMe | rs7412 |
| SNPshot | rs7412 |
| SNPdbe | rs7412 |
| MSV3d | rs7412 |
| GWAS Ctlg | rs7412 |
| GMAF | 0.07392 |
| Max Magnitude | 1 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
The ancestral allele is C. The rs7412(T) allele, also known as Arg176Cys, generally indicates the presence of an Apoε2 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.
| OMIM | 107741 |
| Desc | HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2-FUKUOKA |
| Variant | 0019 |
| Related | also |
[PMID 20406466
] Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey
[PMID 20429872] Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study
[PMID 21263195] An APOE Haplotype Associated with Decreased ?4 Expression Increases the Risk of Late Onset Alzheimer's Disease
[PMID 22174202] Apolipoprotein E Gene Polymorphisms Are Strong Predictors of Inflammation and Dyslipidemia in Rheumatoid Arthritis
| GWAS snp | |
|---|---|
| PMID | [PMID 22286219]
|
| Trait | |
| Title | Genome-wide association study identifies multiple loci influencing human serum metabolite levels. |
| Risk Allele | |
| P-val | 3E-58 |
| Odds Ratio | 0.7500 None |
| ClinVar | |
|---|---|
| Risk | Rs7412(T;T) |
| Alt | Rs7412(T;T) |
| Reference | Rs7412(C;C) |
| Significance | Other |
| Disease | Familial type 3 hyperlipoproteinemia Apolipoproteinemia E1 Atorvastatin response - Efficacy not provided |
| Variation | info |
| Gene | APOE |
| CLNDBN | Familial type 3 hyperlipoproteinemia Apolipoproteinemia E1 atorvastatin response - Efficacy not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.45412079C>T |
| CLNSRC | OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein) |
| CLNACC | RCV000019428.28, RCV000019439.27, RCV000019452.30, RCV000019454.28, RCV000211178.1, RCV000346955.1, |
[PMID 15113403] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
[PMID 15157284] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
[PMID 16603077] Variation at APOE and STH loci and Alzheimer's disease.
[PMID 17356695] Variation in GYS1 interacts with exercise and gender to predict cardiovascular mortality.
[PMID 17357073] 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.
[PMID 17434289] Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: patterns of linkage disequilibrium and disease/marker association.
[PMID 17658295] Association of ApoE genetic variants with obstructive sleep apnea in children.
[PMID 17672902] Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.
[PMID 17903299] A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.
[PMID 18034366] Lack of replication of genetic associations with human longevity.
[PMID 18216863] Genetic determinants of basal C-reactive protein expression in Filipino systemic lupus erythematosus families.
[PMID 18254975] Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat.
[PMID 18275964] Low-density lipoprotein and high-density lipoprotein cholesterol levels in relation to genetic polymorphisms and menopausal status: the Atherosclerosis Risk in Communities (ARIC) Study.
[PMID 18378515] APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels.
[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18823527] A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.
[PMID 18974842] Gender differences in genetic risk profiles for cardiovascular disease.
[PMID 18976728] Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE.
[PMID 19001172] Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: implication of additional loci.
[PMID 19014573] Application of two machine learning algorithms to genetic association studies in the presence of covariates.
[PMID 19058936] A polymorphism of apolipoprotein E (APOE) gene is associated with age at natural menopause in Caucasian females.
[PMID 19118814] Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19262956] GAB2 gene does not modify the risk of Alzheimer's disease in Spanish APOE 4 carriers.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19285141] Genetic determinants of target and novelty-related event-related potentials in the auditory oddball response.
[PMID 19299407] Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.
[PMID 19336475] Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
[PMID 19377787] Association between apolipoprotein E genotype, serum lipids, and colorectal cancer in Brazilian individuals.
[PMID 19541455] Apolipoprotein-E gene variants associated with cardiovascular risk factors in antipsychotic recipients.
[PMID 19668339] Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
[PMID 19756043] A simple and efficient algorithm for genome-wide homozygosity analysis in disease.
[PMID 19787382] Introduction to the DISRUPT postprandial database: subjects, studies and methodologies.
[PMID 19802338] 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.
[PMID 19913121] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
[PMID 19936222] Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
[PMID 19951432] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
[PMID 20031563] Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics Study.
[PMID 20082485] Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women.
[PMID 20451875] Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 20663622] A susceptible haplotype within APOE gene influences BMD and intensifies the osteoporosis risk in postmenopausal women of Northwest India.
[PMID 20682755] A pilot study of gene/gene and gene/environment interactions in Alzheimer disease.
[PMID 20832063] Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.
[PMID 21215387] IQ, educational attainment, memory and plasma lipids: associations with apolipoprotein E genotype in 5995 children.
[PMID 21285406] Low-density lipoprotein cholesterol and the risk of cancer: a mendelian randomization study.
[PMID 21379329] Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.
[PMID 21647738] 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.
[PMID 21689001] Association study between apolipoprotein E gene polymorphism and diabetic nephropathy in a Taiwanese population.
[PMID 21703254] APOE haplotypes are associated with human longevity in a Central Italy population: evidence for epistasis with HP 1/2 polymorphism.
| GWAS snp | |
|---|---|
| PMID | [PMID 23067351]
|
| Trait | LDL cholesterol |
| Title | High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. |
| Risk Allele | |
| P-val | 2E-9 |
| Odds Ratio | 12.30 [8.4-16.3] mg/dL decrease |
[PMID 23050023] Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals
[PMID 24291031] Association of APOE, GCPII and MMP9 polymorphisms with common diseases and lipid levels in an older adult/elderly cohort
[PMID 22651940] The SIRT2 polymorphism rs10410544 and risk of Alzheimer's disease in two Caucasian case-control cohorts.
[PMID 22710912] TOMM40, APOE, and APOC1 in primary progressive aphasia and frontotemporal dementia.
[PMID 22715478] Genotypes associated with lipid metabolism contribute to differences in serum lipid profile of GH-deficient adults before and after GH replacement therapy.
[PMID 22898894] Pleiotropy and allelic heterogeneity in the TOMM40-APOE genomic region related to clinical and metabolic features of hepatitis C infection.
[PMID 22922093] Low-density lipoprotein cholesterol and risk of gallstone disease: a Mendelian randomization study and meta-analyses.
[PMID 23430611] Identification of a functional apolipoprotein E promoter polymorphism regulating plasma apolipoprotein E concentration.
[PMID 23533563] Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.
[PMID 25085564] Influence of multiple
| GWAS snp | |
|---|---|
| PMID | [PMID 24023260]
|
| Trait | Lipid traits |
| Title | Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. |
| Risk Allele | T |
| P-val | 3E-53 |
| Odds Ratio | .48 [0.42-0.54] unit decrease |
[PMID 26043189] Genetic determinants of quantitative traits associated with cardiovascular disease risk
[PMID 26175754] DNA methylation and single nucleotide variants in the brain-derived neurotrophic factor (BDNF) and oxytocin receptor (OXTR) genes are associated with anxiety/depression in older women
[PMID 26405973] Gene environment interaction of GALNT2 and APOE gene with hypertension in the Chinese Han Population
[PMID 26404360] Effects of APOE rs429358, rs7412 and GSTM1/GSTT1 Polymorphism on Plasma and Erythrocyte Antioxidant Parameters and Cognition in Old Chinese Adults
[PMID 25545672] Apolipoprotein E gene polymorphisms in relation to chronic periodontitis, periodontopathic bacteria, and lipid levels
[PMID 28189700] CSF protein changes associated with hippocampal sclerosis risk gene variants highlight impact of GRN/PGRN.
[PMID 28480219] Apolipoprotein E Genotype in Very Preterm Neonates with Intrauterine Growth Restriction: An Analysis of the German Neonatal Network Cohort.
[PMID 28512139] A genome-wide association meta-analysis on lipoprotein(a) concentrations adjusted for apolipoprotein(a) isoforms.
[PMID 29532745] Association of smoking but not HLA-DRB1*15:01, APOE or body mass index with brain atrophy in early multiple sclerosis.
[PMID 32622117] Trace elements and APOE polymorphisms in pregnant women and their new-borns.
[PMID 33163038] Lack of association between genetic variants in the 19q13.32 region and CHD risk in the Algerian population: a population-based nested case-control study.
[PMID 33204816] Haplotype architecture of the Alzheimer's risk in the APOE region via co-skewness.
[PMID 33296721] Quantile-specific heritability of total cholesterol and its pharmacogenetic and nutrigenetic implications.
[PMID 33437219] Influence of CYP4F2, ApoE, and CYP2A6 gene polymorphisms on the variability of Warfarin dosage requirements and susceptibility to cardiovascular disease in Jordan.
