{{Rsnum
|rsid=2258689
|Gene=MAPT
|Chromosome=17
|position=45990016
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.3242
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MAPT
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 2.7 | 31.9 | 65.5
| HCB | 46.7 | 42.3 | 10.9
| JPT | 40.7 | 42.5 | 16.8
| YRI | 1.4 | 21.8 | 76.9
| ASW | 1.8 | 36.8 | 61.4
| CHB | 46.7 | 42.3 | 10.9
| CHD | 42.2 | 44.0 | 13.8
| GIH | 13.9 | 46.5 | 39.6
| LWK | 0.0 | 13.6 | 86.4
| MEX | 10.3 | 43.1 | 46.6
| MKK | 12.2 | 39.1 | 48.7
| TSI | 4.9 | 34.3 | 60.8
| HapMapRevision=28
}}

{{Venter SNP
|rsid=2258689
|allele=T
|frequency=0.825
|uid=1103645332595
|type=homozygous_SNP
|hugo=MAPT
|ensembl gene=ENSG00000186868
|ensembl transcript=ENST00000262410
|sift=TOLERATED
|disease=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
|rsid=2258689
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=44067382
|CHROM=17
|GMAF=0.3237
|dbSNPBuildID=100
|SSR=0
|SAO=0
|VP=0x05016800000015051f100100
|GENEINFO=MAPT:4137
|GENE_NAME=MAPT
|GENE_ID=4137
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.44067382T>C
|CLNSIG=1
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.6758; 0.3242
|COMMON=1
|CLNACC=RCV000084507.1
|CLNDBN=not provided
|CLNSRC=Neurodegenerative Brain Diseases Group
|CLNSRCID=ADM_214
|Disease=not provided
}}

{{PMID Auto
|PMID=15297935
|Title=Linkage disequilibrium and association of MAPT H1 in Parkinson disease.
|OA=1
}}

{{PMID Auto
|PMID=18509094
|Title=Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.
|OA=1
}}

{{PMID Auto
|PMID=18541914
|Title=Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition.
|OA=1
}}

{{GET Evidence
|gene=MAPT
|aa_change=His441Tyr
|aa_change_short=H441Y
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2258689
|overall_frequency_n=95
|overall_frequency_d=128
|overall_frequency=0.742188
|n_genomes=51
|n_genomes_annotated=0
|n_haplomes=78
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.985
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=4
|n_web_uneval=2
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}