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rs7521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs7521(A;G)
Make rs7521(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position46028029
GeneMAPT
is asnp
is mentioned by
dbSNPrs7521
dbSNP (classic)rs7521
ClinGenrs7521
ebirs7521
HLIrs7521
Exacrs7521
Gnomadrs7521
Varsomers7521
LitVarrs7521
Maprs7521
PheGenIrs7521
Biobankrs7521
1000 genomesrs7521
hgdprs7521
ensemblrs7521
geneviewrs7521
scholarrs7521
googlers7521
pharmgkbrs7521
gwascentralrs7521
openSNPrs7521
23andMers7521
SNPshotrs7521
SNPdbers7521
MSV3drs7521
GWAS Ctlgrs7521
GMAF0.3173
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 19450659] Microtubule-Associated Protein Tau (MAPT) Influences the Risk of Parkinson's Disease Among Indians


[PMID 20951764] High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospinal ?-amyloid in Parkinson 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 19558713OA-icon.png] Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease.


ClinVar
Risk rs7521(G;G)
Alt rs7521(G;G)
Reference Rs7521(A;A)
Significance Non-pathogenic
Disease Intellectual disability syndrome MAPT-Related Spectrum Disorders
Variation info
Gene MAPT
CLNDBN Intellectual disability syndrome MAPT-Related Spectrum Disorders
Reversed 0
HGVS NC_000017.10:g.44105395A>G
CLNSRC
CLNACC RCV000291575.1, RCV000371918.1,