chr6:43770057:A>G Detail (hg38) (VEGFA, POLR1C, LOC129996535)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:43,737,794-43,737,794 View the variant detail on this assembly version. |
| hg38 | chr6:43,770,057-43,770,057 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.687 | |
| 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 | ABLEPHARON-MACROSTOMIA SYNDROME | Heart rate (HR) was found to be significantly associated with the eNOS3 SNP (rs1... | BeFree | 22729570 | Detail |
| 0.007 | Secondary malignant neoplasm of liver | T-1498C (G-1190A) and C-7T were found to be associated with higher levels of VEG... | BeFree | 15522212 | Detail |
| 0.002 | Adenocarcinoma of large intestine | T-1498C (G-1190A) and C-7T were found to be associated with higher levels of VEG... | BeFree | 15522212 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001318876.2(POLR1C):c.945+240786A>G AND not provided | ClinVar | Detail |
| Heart rate (HR) was found to be significantly associated with the eNOS3 SNP (rs1799983) and arterial... | DisGeNET | Detail |
| T-1498C (G-1190A) and C-7T were found to be associated with higher levels of VEGF mRNA, and may be a... | DisGeNET | Detail |
| T-1498C (G-1190A) and C-7T were found to be associated with higher levels of VEGF mRNA, and may be a... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs13207351 dbSNP
- Genome
- hg38
- Position
- chr6:43,770,057-43,770,057
- 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))
- rs13207351
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6869
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11474
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16704
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