chr7:54978924:C>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:54,978,924-54,978,924 |
| hg38 | chr7:54,911,231-54,911,231 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:0.010 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.130 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.257 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.223 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.173 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.252 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.257 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.269 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.136 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.136 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.252 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.130 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.002 | Glioma | [Chromosome 7p11.2 (EGFR) variation influences glioma risk.] | GAD | 21531791 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| [Chromosome 7p11.2 (EGFR) variation influences glioma risk.] | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2252586 dbSNP
- Genome
- hg19
- Position
- chr7:54,978,924-54,978,924
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs2252586
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0105
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 176
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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