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rs242557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 0 normal
(G;G) 0


Make rs242557(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position45942346
GeneMAPT
is asnp
is mentioned by
dbSNPrs242557
ebirs242557
HLIrs242557
Exacrs242557
Varsomers242557
Maprs242557
PheGenIrs242557
hapmaprs242557
1000 genomesrs242557
hgdprs242557
ensemblrs242557
gopubmedrs242557
geneviewrs242557
scholarrs242557
googlers242557
pharmgkbrs242557
gwascentralrs242557
openSNPrs242557
23andMers242557
23andMe allrs242557
SNP Nexus

SNPshotrs242557
SNPdbers242557
MSV3drs242557
GWAS Ctlgrs242557
GMAF0.4174
Max Magnitude0
? (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 19912324OA-icon.png] 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

OMIM157140
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 21685912OA-icon.png]
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 17266761OA-icon.png] Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease.


[PMID 18065436OA-icon.png] The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family.


[PMID 18072964OA-icon.png] No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease.


[PMID 18541914OA-icon.png] Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition.


[PMID 19063963OA-icon.png] Genetic susceptibility in Parkinson's disease.


[PMID 19558713OA-icon.png] 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 21391235OA-icon.png] Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.


[PMID 22291217OA-icon.png] 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.