rs405509
| Orientation | minus |
| Stabilized | minus |
| Make rs405509(A;A) |
| Make rs405509(A;C) |
| Make rs405509(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 44905579 |
| Gene | APOE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs405509 |
| dbSNP (classic) | rs405509 |
| ClinGen | rs405509 |
| ebi | rs405509 |
| HLI | rs405509 |
| Exac | rs405509 |
| Gnomad | rs405509 |
| Varsome | rs405509 |
| LitVar | rs405509 |
| Map | rs405509 |
| PheGenI | rs405509 |
| Biobank | rs405509 |
| 1000 genomes | rs405509 |
| hgdp | rs405509 |
| ensembl | rs405509 |
| geneview | rs405509 |
| scholar | rs405509 |
| rs405509 | |
| pharmgkb | rs405509 |
| gwascentral | rs405509 |
| openSNP | rs405509 |
| 23andMe | rs405509 |
| SNPshot | rs405509 |
| SNPdbe | rs405509 |
| MSV3d | rs405509 |
| GWAS Ctlg | rs405509 |
| GMAF | 0.4931 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 17658295] obstructive sleep apnea rs405509
[PMID 19172988
] Significant Alzheimer's disease associations with were found for rs449647(A;A) and rs405509(G;G) genotypes (positive), and rs449647(A;T) and rs405509(T;T)
Note: the 2016 paper discussing a potential algorithm for Alzheimer's risk based on ApoE promoter polymorphisms, [PMID 27193889], is considered too preliminary (and based on too few patients) to add to SNPedia in any detail.
[PMID 19282863] Association of candidate gene polymorphisms with chronic kidney disease in Japanese individuals with hypertension
[PMID 19384966] Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene
[PMID 19808960] Apolipoprotein E/C1 Locus Variants Modify Renal Cell Carcinoma Risk
[PMID 21263195] An APOE Haplotype Associated with Decreased ?4 Expression Increases the Risk of Late Onset Alzheimer's Disease
[PMID 21266206] Association of apolipoprotein E promoter polymorphisms with bone structural traits is modified by dietary saturated fat intake - The Cardiovascular Risk in Young Finns Study
[PMID 22028770] APOE Genotype-Function Relationship: Evidence of -491 A/T Promoter Polymorphism Modifying Transcription Control but Not Type 2 Diabetes Risk
[PMID 16617143] Algorithm for automatic genotype calling of single nucleotide polymorphisms using the full course of TaqMan real-time data.
[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 17672902] Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.
[PMID 18161859] Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13?
[PMID 18254975] Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat.
[PMID 18280754] Cholesterol-related genetic risk scores are associated with hypometabolism in Alzheimer's-affected brain regions.
[PMID 18813964] Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.
[PMID 18823527] A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.
[PMID 19118814] Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.
[PMID 19327864] SNPit: a federated data integration system for the purpose of functional SNP annotation.
[PMID 19406964] Association of genetic variants with chronic kidney disease in Japanese individuals.
[PMID 19408013] Strategies and issues in the detection of pathway enrichment in genome-wide association studies.
[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 19734902] Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
[PMID 20396431] Genotyping sleep disorders patients.
[PMID 20467002] Impact of psychological stress on the associations between apolipoprotein E variants and metabolic traits: findings in an American sample of caregivers and controls.
[PMID 20723945] The APOE -219G/T and +113G/C polymorphisms affect insulin resistance among Turks.
[PMID 21283811] Associations between APOE variants and metabolic traits and the impact of psychological stress.
[PMID 21882290] Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.
[PMID 22430674] Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease.
[PMID 23021345] Gene-diet interactions on plasma lipid levels in the Inuit population.
[PMID 23193196] Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis.
[PMID 25085564] Influence of multiple
| ClinVar | |
|---|---|
| Risk | rs405509(C;C) |
| Alt | rs405509(C;C) |
| Reference | rs405509(A;A) |
| Significance | Other |
| Disease | Myocardial infarction Coronary artery disease |
| Variation | info |
| Gene | APOE |
| CLNDBN | Myocardial infarction Coronary artery disease, severe, susceptibility to |
| Reversed | 1 |
| HGVS | NC_000019.9:g.45408836T\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019463.4, RCV000019464.3, |
[PMID 26405973] Gene environment interaction of GALNT2 and APOE gene with hypertension in the Chinese Han Population
[PMID 28346566] Gene- Gene Interaction between PPARG and APOE Gene on Late-Onset Alzheimer's Disease: A Case- Control Study in Chinese Han Population.
[PMID 30706571] A candidate gene study of risk for dementia in older, post-menopausal women: Results from the Women's Health Initiative Memory Study.
[PMID 31426376] APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE ε4 on Alzheimer's Disease Risk in a Multiracial Sample.
[PMID 32682842] APOE rs405509 polymorphism and Parkinson's disease risk in the Chinese population.
[PMID 33437219] Influence of CYP4F2, ApoE, and CYP2A6 gene polymorphisms on the variability of Warfarin dosage requirements and susceptibility to cardiovascular disease in Jordan.
