chr6:43770093:A>G Detail (hg38) (VEGFA, POLR1C, LOC129996535)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:43,737,830-43,737,830 View the variant detail on this assembly version. |
| hg38 | chr6:43,770,093-43,770,093 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.861 | |
| 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 |
| <0.001 | Experimental Organism Basal Cell Carcinoma | The -1154 G/A VEGF gene polymorphism is associated with the incidence of basal c... | BeFree | 24902660 | Detail |
| 0.015 | Kidney Failure, Chronic | The aim of the present study was to assess the influence of the -2578 C/A and th... | BeFree | 19060482 | Detail |
| 0.003 | Squamous cell carcinoma of esophagus | VEGF G-1154A is predictive of severe acute toxicities during chemoradiotherapy f... | BeFree | 18641541 | Detail |
| 0.001 | lipoid nephrosis | Finally, we have not proved any significant influence of the polymorphisms at po... | BeFree | 21978756 | Detail |
| 0.015 | Kidney Failure, Chronic | Hence, the -1154 G>A polymorphism (rs1570360) and two haplotypes (CGTC and CA... | BeFree | 21080079 | Detail |
| 0.004 | Lip and oral cavity carcinoma | In this study, we examined whether individual polymorphisms within VEGF-A gene, ... | BeFree | 22818823 | Detail |
| 0.002 | Chronic kidney disease stage 5 | The aim of the present study was to assess the influence of the -2578 C/A and th... | BeFree | 19060482 | Detail |
| 0.055 | Colorectal Neoplasms | According to our results, -1154 G/A and -460 C/T do not influence VEGF mRNA expr... | BeFree | 18613756 | Detail |
| 0.002 | Chronic kidney disease stage 5 | Hence, the -1154 G>A polymorphism (rs1570360) and two haplotypes (CGTC and CA... | BeFree | 21080079 | Detail |
| 0.009 | Malignant neoplasm of mouth | In this study, we examined whether individual polymorphisms within VEGF-A gene, ... | BeFree | 22818823 | Detail |
| <0.001 | Glomerulonephritis, Minimal Change | Finally, we have not proved any significant influence of the polymorphisms at po... | BeFree | 21978756 | Detail |
| 0.002 | glomerulonephritis | The association between therapeutic outcomes and VEGF G-1154A and C-936T gene po... | BeFree | 24673399 | Detail |
| 0.155 | endometriosis | Association of polymorphisms -1154G/A and -2578C/A in the vascular endothelial g... | BeFree | 19531502 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001318876.2(POLR1C):c.945+240822A>G AND not provided | ClinVar | Detail |
| Heart rate (HR) was found to be significantly associated with the eNOS3 SNP (rs1799983) and arterial... | DisGeNET | Detail |
| The -1154 G/A VEGF gene polymorphism is associated with the incidence of basal cell carcinoma in pat... | DisGeNET | Detail |
| The aim of the present study was to assess the influence of the -2578 C/A and the -1154 G/A polymorp... | DisGeNET | Detail |
| VEGF G-1154A is predictive of severe acute toxicities during chemoradiotherapy for esophageal squamo... | DisGeNET | Detail |
| Finally, we have not proved any significant influence of the polymorphisms at positions -2578 C/A an... | DisGeNET | Detail |
| Hence, the -1154 G>A polymorphism (rs1570360) and two haplotypes (CGTC and CATC) of VEGF appear t... | DisGeNET | Detail |
| In this study, we examined whether individual polymorphisms within VEGF-A gene, rs699947 (-2578C/A),... | DisGeNET | Detail |
| The aim of the present study was to assess the influence of the -2578 C/A and the -1154 G/A polymorp... | DisGeNET | Detail |
| According to our results, -1154 G/A and -460 C/T do not influence VEGF mRNA expression in colorectal... | DisGeNET | Detail |
| Hence, the -1154 G>A polymorphism (rs1570360) and two haplotypes (CGTC and CATC) of VEGF appear t... | DisGeNET | Detail |
| In this study, we examined whether individual polymorphisms within VEGF-A gene, rs699947 (-2578C/A),... | DisGeNET | Detail |
| Finally, we have not proved any significant influence of the polymorphisms at positions -2578 C/A an... | DisGeNET | Detail |
| The association between therapeutic outcomes and VEGF G-1154A and C-936T gene polymorphisms in patie... | DisGeNET | Detail |
| Association of polymorphisms -1154G/A and -2578C/A in the vascular endothelial growth factor gene wi... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1570360 dbSNP
- Genome
- hg38
- Position
- chr6:43,770,093-43,770,093
- 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))
- rs1570360
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8606
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14407
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16740
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