chr14:64279461:G>A Detail (hg38) (ESR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:64,746,179-64,746,179 View the variant detail on this assembly version. |
| hg38 | chr14:64,279,461-64,279,461 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001271877.1:c.535+520C>T | |
| NM_001437.2:c.535+520C>T | ||
| NM_001040275.1:c.535+520C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.518 | |
| 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 |
|---|---|---|---|---|---|
| 0.003 | ovarian carcinoma | Unconditional logistic regression was used to test associations of rs1271572, rs... | BeFree | 18704709 | Detail |
| 0.008 | Malignant neoplasm of ovary | Unconditional logistic regression was used to test associations of rs1271572, rs... | BeFree | 18704709 | Detail |
| 0.003 | low tension glaucoma | Four hundred and twenty-five Japanese patients with POAG, including normal-tensi... | BeFree | 20399928 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Unconditional logistic regression was used to test associations of rs1271572, rs1256030, rs1256031, ... | DisGeNET | Detail |
| Unconditional logistic regression was used to test associations of rs1271572, rs1256030, rs1256031, ... | DisGeNET | Detail |
| Four hundred and twenty-five Japanese patients with POAG, including normal-tension glaucoma (NTG, n ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1256031 dbSNP
- Genome
- hg38
- Position
- chr14:64,279,461-64,279,461
- 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))
- rs1256031
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.518
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8682
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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