chr9:87542369:G>T Detail (hg19) (NTRK2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:87,542,369-87,542,369 |
| hg38 | chr9:84,927,454-84,927,454 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001018064.2:c.1550-6708G>T | |
| Ensemble | ENST00000277120.8:c.1634-6708G>T | |
| ENST00000323115.11:c.1550-6708G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.460 | |
| 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 |
|---|---|---|---|---|---|
| 0.042 | major depressive disorder | We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleo... | BeFree | 20014955 | Detail |
| 0.002 | major depressive disorder | We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleo... | BeFree | 20014955 | Detail |
| 0.002 | Unipolar Depression | We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleo... | BeFree | 20014955 | Detail |
| 0.022 | Unipolar Depression | We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleo... | BeFree | 20014955 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleotide polymorphisms (... | DisGeNET | Detail |
| We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleotide polymorphisms (... | DisGeNET | Detail |
| We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleotide polymorphisms (... | DisGeNET | Detail |
| We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleotide polymorphisms (... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1545285 dbSNP
- Genome
- hg19
- Position
- chr9:87,542,369-87,542,369
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- 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))
- rs1545285
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.46
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7710
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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