chr3:38184370:A>G Detail (hg19) (MYD88)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:38,184,370-38,184,370 |
| hg38 | chr3:38,142,879-38,142,879 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001172567.1:c.*1593A>G | |
| Ensemble | ENST00000417037.8:c.*1593A>G | |
| ENST00000421516.3:c.*1593A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.016 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Tuberculosis, Pulmonary | The MyD88 rs6853 and TIRAP rs8177374 polymorphic sites are associated with resis... | BeFree | 24067789 | Detail |
| 0.006 | Tuberculosis, Pulmonary | The MyD88 rs6853 and TIRAP rs8177374 polymorphic sites are associated with resis... | BeFree | 24067789 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The MyD88 rs6853 and TIRAP rs8177374 polymorphic sites are associated with resistance to human pulmo... | DisGeNET | Detail |
| The MyD88 rs6853 and TIRAP rs8177374 polymorphic sites are associated with resistance to human pulmo... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs6853 dbSNP
- Genome
- hg19
- Position
- chr3:38,184,370-38,184,370
- 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))
- rs6853
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0161
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 269
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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