chr22:19921903:G>A Detail (hg38) (TXNRD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:19,909,426-19,909,426 View the variant detail on this assembly version. |
| hg38 | chr22:19,921,903-19,921,903 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001282512.1:c.173-2304C>T | |
| NM_001352301.1:c.83-2304C>T | ||
| NM_001352300.1:c.170-2304C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.498 | |
| 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 |
|---|---|---|---|---|---|
| 0.002 | breast carcinoma | Two variants, 6q25.1-rs9383938 and TXNRD2-rs8141691, were statistically signific... | BeFree | 25002657 | Detail |
| 0.009 | Malignant neoplasm of breast | Two variants, 6q25.1-rs9383938 and TXNRD2-rs8141691, were statistically signific... | BeFree | 25002657 | Detail |
| <0.001 | Mammographic Density | Two variants, 6q25.1-rs9383938 and TXNRD2-rs8141691, were statistically signific... | BeFree | 25002657 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Two variants, 6q25.1-rs9383938 and TXNRD2-rs8141691, were statistically significantly associated wit... | DisGeNET | Detail |
| Two variants, 6q25.1-rs9383938 and TXNRD2-rs8141691, were statistically significantly associated wit... | DisGeNET | Detail |
| Two variants, 6q25.1-rs9383938 and TXNRD2-rs8141691, were statistically significantly associated wit... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs8141691 dbSNP
- Genome
- hg38
- Position
- chr22:19,921,903-19,921,903
- 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))
- rs8141691
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4979
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8344
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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