chr3:39523003:T>C Detail (hg19) (MOBP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:39,523,003-39,523,003 |
| hg38 | chr3:39,481,512-39,481,512 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_182935.3:c.-5+1389T>C | |
| NM_001278323.1:c.-71+13772T>C | ||
| Ensemble | ENST00000383754.7:c.-5+1389T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.420 | |
| 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 |
|---|---|---|---|---|---|
| 0.243 | progressive supranuclear palsy | We found significant previously unidentified signals (P < 5 × 10(-8)) associa... | GWASCAT | 21685912 | Detail |
| 0.243 | progressive supranuclear palsy | [We found significant previously unidentified signals (P < 5 A 10(-8)) associate... | GAD | 21685912 | Detail |
| 0.209 | Tauopathies | Eighty-one patients with sporadic bvFTD were genotyped for tauopathy-associated ... | BeFree | 24994843 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at... | DisGeNET | Detail |
| [We found significant previously unidentified signals (P < 5 A 10(-8)) associated with PSP risk at S... | DisGeNET | Detail |
| Eighty-one patients with sporadic bvFTD were genotyped for tauopathy-associated SNPs at rs8070723 (m... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1768208 dbSNP
- Genome
- hg19
- Position
- chr3:39,523,003-39,523,003
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs1768208
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4196
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7033
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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