rs242557
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 0 | normal |
| (G;G) | 0 |
| Make rs242557(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 45942346 |
| Gene | MAPT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs242557 |
| dbSNP (classic) | rs242557 |
| ClinGen | rs242557 |
| ebi | rs242557 |
| HLI | rs242557 |
| Exac | rs242557 |
| Gnomad | rs242557 |
| Varsome | rs242557 |
| LitVar | rs242557 |
| Map | rs242557 |
| PheGenI | rs242557 |
| Biobank | rs242557 |
| 1000 genomes | rs242557 |
| hgdp | rs242557 |
| ensembl | rs242557 |
| geneview | rs242557 |
| scholar | rs242557 |
| rs242557 | |
| pharmgkb | rs242557 |
| gwascentral | rs242557 |
| openSNP | rs242557 |
| 23andMe | rs242557 |
| SNPshot | rs242557 |
| SNPdbe | rs242557 |
| MSV3d | rs242557 |
| GWAS Ctlg | rs242557 |
| GMAF | 0.4174 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
An initial case-control study [PMID 18841019] of 300 patients with Alzheimer's disease found that subjects carrying both the rs2071746(T;T) and rs242557(A;A) genotypes had increased risk, however the confidence interval was huge (CI: 1.12-39.29; p = 0.037) and later studies have either failed to replicate the results or shown them to only partially hold in APOE4 carriers.
[PMID 19308965] Reports that they found only "nominally significant" association between Alzheimer's and rs242557 in ApoE4 positive individuals.
[PMID 19912324
] Association of the MAPT locus with Parkinson's disease
[PMID 20951764] High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospinal ?-amyloid in Parkinson disease
| GWAS snp | |
|---|---|
| PMID | [PMID 21685912]
|
| Trait | |
| Title | Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. |
| Risk Allele | |
| P-val | 9E-18 |
| Odds Ratio | 1.4300 [1.32-1.54] |
[PMID 17179995] Fine mapping of the MAPT locus using quantitative trait analysis identifies possible causal variants in Alzheimer's disease.
[PMID 17192721] Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts.
[PMID 17266761] Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease.
[PMID 18065436] The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family.
[PMID 18072964] No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease.
[PMID 18541914] Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition.
[PMID 19063963] Genetic susceptibility in Parkinson's disease.
[PMID 19558713] Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease.
[PMID 19879020] Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy.
[PMID 21391235] Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
[PMID 22291217] An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology.
[PMID 23116876] An exploratory study on STX6, MOBP, MAPT, and EIF2AK3 and late-onset Alzheimer's disease.
[PMID 24923570] Structural study of the microtubule-associated protein tau locus of Alzheimer's disease in Taiwan
[PMID 27115769] Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci.
[PMID 28302384] The bridging integrator 1 Gene rs7561528 polymorphism contributes to Alzheimer's disease susceptibility in East Asian and Caucasian populations.
[PMID 28415654] The associations between the MAPT polymorphisms and Alzheimer's disease risk: a meta-analysis.
