chr9:120921879:G>A Detail (hg38) (TRAF1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:123,684,157-123,684,157 View the variant detail on this assembly version. |
| hg38 | chr9:120,921,879-120,921,879 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005658.4:c.228+1826C>T | |
| NM_001190945.1:c.228+1826C>T | ||
| Ensemble | ENST00000373887.8:c.228+1826C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.724 | |
| 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 |
|---|---|---|---|---|---|
| 0.524 | rheumatoid arthritis | We genotyped SNPs rs3761847 and rs7021206 at the TRAF1/C5 locus and rs2476601 SN... | BeFree | 21492465 | Detail |
| 0.123 | rheumatoid arthritis | Our results demonstrate that within and around TRAF1, excluding PHF19 and C5, SN... | BeFree | 19714643 | Detail |
| <0.001 | rheumatoid arthritis | None of the SNPs tested was associated with RA susceptibility, except rs7021206 ... | BeFree | 19714643 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We genotyped SNPs rs3761847 and rs7021206 at the TRAF1/C5 locus and rs2476601 SNP in the PTPN22 gene... | DisGeNET | Detail |
| Our results demonstrate that within and around TRAF1, excluding PHF19 and C5, SNPs highly correlated... | DisGeNET | Detail |
| None of the SNPs tested was associated with RA susceptibility, except rs7021206 in TRAF1 intron 3 (P... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs7021206 dbSNP
- Genome
- hg38
- Position
- chr9:120,921,879-120,921,879
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs7021206
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.724
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12134
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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