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rs1800547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 MAPT H1/H1 diplotype
(A;G) 1 MAPT H1/H2 (heterozygous) diplotype
(G;G) 1 MAPT H2/H2 diplotype
ReferenceGRCh38 38.1/141
Chromosome17
Position45974480
GeneMAPT
is asnp
is mentioned by
dbSNPrs1800547
ebirs1800547
HLIrs1800547
Exacrs1800547
Varsomers1800547
Maprs1800547
PheGenIrs1800547
hapmaprs1800547
1000 genomesrs1800547
hgdprs1800547
ensemblrs1800547
gopubmedrs1800547
geneviewrs1800547
scholarrs1800547
googlers1800547
pharmgkbrs1800547
gwascentralrs1800547
openSNPrs1800547
23andMers1800547
23andMe allrs1800547
SNP Nexus

SNPshotrs1800547
SNPdbers1800547
MSV3drs1800547
GWAS Ctlgrs1800547
GMAF0.1171
Max Magnitude1
? (A;A) (A;G) (G;G) 28
[PMID 21425343OA-icon.png] replicates the association between rs1800547 and late-onset Parkinson's disease, calculating an odds ratio of 0.77 (CI: 0.66 - 0.88, p=3x10e-4) for the rarer rs1800547(G) allele among 1445 patients from northern Spain.

[PMID 18509094OA-icon.png] significantly associated with parkinson's disease

OMIM157140
DescMICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT
Variant
Relatedalso


[PMID 20951764] High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospinal beta-amyloid in Parkinson disease


[PMID 22104010OA-icon.png] SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population


[PMID 19558713OA-icon.png] Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease.


[PMID 19763160OA-icon.png] Genetic analysis of variation in human meiotic recombination.