Rs242557

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is asnp
is mentioned by
dbSNPrs242557
nextbiors242557
hapmaprs242557
1000 genomesrs242557
hgdprs242557
ensemblrs242557
gopubmedrs242557
scholarrs242557
googlers242557
pharmgkbrs242557
gwascentralrs242557
openSNPrs242557
23andMers242557
23andMe allrs242557
SNP Nexus

SNPshotrs242557
SNPdbers242557
MSV3drs242557
GeneMAPT
Chromosome17
Orientationplus
Position44019712
ReferenceGRCh37 37.1/131
Max Magnitude0
Geno Mag Summary
(A;A) 0 normal
(A;G) 0 normal
(G;G) 0
? (A;A) (A;G) (G;G) 28
A case-control study of 300 patients with Alzheimer's disease found that subjects carrying both the rs2071746(T;T) and rs242557(A;A) genotypes had a 6.65x increased risk (CI: 1.12-39.29; p = 0.037) compared to subjects without these risk genotypes. [PMID 18841019] This combination of SNPs was formerly listed as the gs124 genoset, which was dropped from SNPedia.

[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

OMIM157140
Desc
Variant
Relatedalso
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]
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