chr17:46003698:A>G Detail (hg38) (MAPT)

Information

Genome

Assembly Position
hg19 chr17:44,081,064-44,081,064 View the variant detail on this assembly version.
hg38 chr17:46,003,698-46,003,698

HGVS

Type Transcript Protein
RefSeq NM_016835.4:c.1999-6612A>G
NM_001123066.3:c.1800+7034A>G
NM_005910.5:c.823-6612A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 157140 OMIM
HGNC 6893 HGNC
Ensembl ENSG00000186868 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57937242 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.209 Tauopathies Eighty-one patients with sporadic bvFTD were genotyped for tauopathy-associated ... BeFree 24994843 Detail
0.558 progressive supranuclear palsy [We confirmed two independent variants in MAPT affecting risk for PSP, one of wh... GAD 21685912 Detail
0.558 progressive supranuclear palsy We confirmed two independent variants in MAPT affecting risk for PSP, one of whi... GWASCAT 21685912 Detail
0.342 Parkinson disease Dissection of the genetics of Parkinson's disease identifies an additional assoc... GWASCAT 21044948 Detail
Annotation

Annotations

DescrptionSourceLinks
Eighty-one patients with sporadic bvFTD were genotyped for tauopathy-associated SNPs at rs8070723 (m... DisGeNET Detail
[We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT ... DisGeNET Detail
We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT b... DisGeNET Detail
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA an... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs8070723 dbSNP
Genome
hg38
Position
chr17:46,003,698-46,003,698
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs8070723
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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