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rs1052553

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1052553(A;G)
Make rs1052553(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position45996523
GeneMAPT
is asnp
is mentioned by
dbSNPrs1052553
ebirs1052553
HLIrs1052553
Exacrs1052553
Varsomers1052553
Maprs1052553
PheGenIrs1052553
hapmaprs1052553
1000 genomesrs1052553
hgdprs1052553
ensemblrs1052553
gopubmedrs1052553
geneviewrs1052553
scholarrs1052553
googlers1052553
pharmgkbrs1052553
gwascentralrs1052553
openSNPrs1052553
23andMers1052553
23andMe allrs1052553
SNP Nexus

SNPshotrs1052553
SNPdbers1052553
MSV3drs1052553
GWAS Ctlgrs1052553
GMAF0.1175
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 19912324OA-icon.png] Association of the MAPT locus with Parkinson's disease


[PMID 21159074] SNCA, MAPT, and GSK3B in Parkinson disease: a gene-gene interaction study


ClinVar
Risk rs1052553(G;G)
Alt rs1052553(G;G)
Reference rs1052553(A;A)
Significance Untested
Disease not provided
Variation info
Gene MAPT
CLNDBN not provided
Reversed 0
HGVS NC_000017.10:g.44073889A>G
CLNSRC ClinVar Neurodegenerative Brain Diseases Group
CLNACC RCV000084512.1,



[PMID 18509094OA-icon.png] Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.

[PMID 20116045OA-icon.png] The distribution and most recent common ancestor of the 17q21 inversion in humans.

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


[PMID 23911736] MAPT Gene Rs1052553 Variant is not Associated with the Risk for Multiple Sclerosis


[PMID 23962496OA-icon.png] The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants


[PMID 24372973OA-icon.png] The microtubule associated protein tau H1 haplotype and risk of essential tremor


[PMID 23001634] MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome.