chr6:32338202:G>T Detail (hg38) (TSBP1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,305,979-32,305,979 View the variant detail on this assembly version. |
| hg38 | chr6:32,338,202-32,338,202 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006781.4:c.409+777C>A | |
| NM_001286475.1:c.340+777C>A | ||
| NM_001286474.1:c.361+777C>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.985 | |
| 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 |
|---|---|---|---|---|---|
| 0.127 | multiple sclerosis | [Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritab... | GAD | 17660530 | Detail |
| 0.002 | Drug-Induced Liver Injury | [A genome-wide study identifies HLA alleles associated with lumiracoxib-related ... | GAD | 20639878 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for ... | DisGeNET | Detail |
| [A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury.] | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3129900 dbSNP
- Genome
- hg38
- Position
- chr6:32,338,202-32,338,202
- 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))
- rs3129900
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9853
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16514
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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