chr17:44081064:A>G Detail (hg19) (MAPT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:44,081,064-44,081,064 |
| hg38 | chr17:46,003,698-46,003,698 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001123066.3:c.1800+7034A>G | |
| NM_001203251.1:c.735+7034A>G | ||
| NM_001203252.1:c.735+7034A>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 | |
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
| Descrption | Source | Links |
|---|---|---|
| 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
- hg19
- Position
- chr17:44,081,064-44,081,064
- 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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