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rs12938245

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs12938245(C;T)
Make rs12938245(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position45983243
GeneMAPT
is asnp
is mentioned by
dbSNPrs12938245
ebirs12938245
HLIrs12938245
Exacrs12938245
Varsomers12938245
Maprs12938245
PheGenIrs12938245
hapmaprs12938245
1000 genomesrs12938245
hgdprs12938245
ensemblrs12938245
gopubmedrs12938245
geneviewrs12938245
scholarrs12938245
googlers12938245
pharmgkbrs12938245
gwascentralrs12938245
openSNPrs12938245
23andMers12938245
23andMe allrs12938245
SNP Nexus

SNPshotrs12938245
SNPdbers12938245
MSV3drs12938245
GWAS Ctlgrs12938245
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene MAPT
allele T
frequency 0
sift TOLERATED
HuRef 1103645332553
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.