chr11:67353253:G>A Detail (hg19) (GSTP1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:67,353,253-67,353,253 |
| hg38 | chr11:67,585,782-67,585,782 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.133 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2021-06-19 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Carcinoma of lung | When Phase 2 software was used to reconstruct the haplotype for GSTP1, the haplo... | BeFree | 24786234 | Detail |
| <0.001 | Malignant neoplasm of lung | When Phase 2 software was used to reconstruct the haplotype for GSTP1, the haplo... | BeFree | 24786234 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000852.4(GSTP1):c.337-322G>A AND not provided | ClinVar | Detail |
| When Phase 2 software was used to reconstruct the haplotype for GSTP1, the haplotype CACA (rs749174+... | DisGeNET | Detail |
| When Phase 2 software was used to reconstruct the haplotype for GSTP1, the haplotype CACA (rs749174+... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs749174 dbSNP
- Genome
- hg19
- Position
- chr11:67,353,253-67,353,253
- 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))
- rs749174
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1332
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2232
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16754
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