chr16:52548037:A>G Detail (hg19) (TOX3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:52,548,037-52,548,037 |
| hg38 | chr16:52,514,125-52,514,125 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001080430.3:c.87+32512T>C | |
| NM_001146188.2:c.75+5281T>C | ||
| Ensemble | ENST00000219746.14:c.87+32512T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.590 | |
| 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 |
|---|---|---|---|---|---|
| 0.170 | Malignant neoplasm of breast | The association with rs12443621 may provide clues as to how variation in TOX3 in... | BeFree | 19232126 | Detail |
| 0.162 | Malignant neoplasm of breast | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.010 | breast carcinoma | The association with rs12443621 may provide clues as to how variation in TOX3 in... | BeFree | 19232126 | Detail |
| 0.166 | Malignant neoplasm of breast | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.031 | breast carcinoma | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.010 | breast carcinoma | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.004 | breast carcinoma | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.006 | breast carcinoma | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| <0.001 | Mammographic Density | Among the premenopausal women, three SNPs (rs12443621 [TNRc9/LOC643714], rs38171... | BeFree | 18681954 | Detail |
| 0.170 | Malignant neoplasm of breast | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
| 0.121 | Mammographic Density | Among the premenopausal women, three SNPs (rs12443621 [TNRc9/LOC643714], rs38171... | BeFree | 18681954 | Detail |
| 0.230 | Malignant neoplasm of breast | Six of the previously identified SNPs showed a statistically significant associa... | BeFree | 22867275 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The association with rs12443621 may provide clues as to how variation in TOX3 influences breast canc... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| The association with rs12443621 may provide clues as to how variation in TOX3 influences breast canc... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Among the premenopausal women, three SNPs (rs12443621 [TNRc9/LOC643714], rs3817198 [lymphocyte-speci... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
| Among the premenopausal women, three SNPs (rs12443621 [TNRc9/LOC643714], rs3817198 [lymphocyte-speci... | DisGeNET | Detail |
| Six of the previously identified SNPs showed a statistically significant association with breast can... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs12443621 dbSNP
- Genome
- hg19
- Position
- chr16:52,548,037-52,548,037
- 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))
- rs12443621
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.59
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9889
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser