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rs2258689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(T;T) 0 common in clinvar
Make rs2258689(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position45990016
GeneMAPT
is asnp
is mentioned by
dbSNPrs2258689
ebirs2258689
HLIrs2258689
Exacrs2258689
Varsomers2258689
Maprs2258689
PheGenIrs2258689
hapmaprs2258689
1000 genomesrs2258689
hgdprs2258689
ensemblrs2258689
gopubmedrs2258689
geneviewrs2258689
scholarrs2258689
googlers2258689
pharmgkbrs2258689
gwascentralrs2258689
openSNPrs2258689
23andMers2258689
23andMe allrs2258689
SNP Nexus

SNPshotrs2258689
SNPdbers2258689
MSV3drs2258689
GWAS Ctlgrs2258689
GMAF0.3242
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene MAPT
allele T
frequency 0.825
sift TOLERATED
HuRef 1103645332595
Disease Association Defects in MAPT may be a cause of hereditary dysphasic disinhibition dementia (HDDD) (MIM:607485). HDDD is a frontotemporal dementia characterized by progressive cognitive deficits with memory loss and personality changes, severe dysphasic disturbances leading to mutism, and hyperphagia.



ClinVar
Risk rs2258689(C;C)
Alt rs2258689(C;C)
Reference rs2258689(T;T)
Significance Untested
Disease not provided
Variation info
Gene MAPT
CLNDBN not provided
Reversed 0
HGVS NC_000017.10:g.44067382T>C
CLNSRC ClinVar Neurodegenerative Brain Diseases Group
CLNACC RCV000084507.1,



[PMID 15297935OA-icon.png] Linkage disequilibrium and association of MAPT H1 in Parkinson disease.


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


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


GET Evidence
MAPT-H441Y
aa_change His441Tyr
aa_change_short H441Y
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.742188
summary