chr17:7685993:G>C Detail (hg38) (TP53)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:7,589,311-7,589,311 View the variant detail on this assembly version. |
| hg38 | chr17:7,685,993-7,685,993 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000546.5:c.-29+1384C>G | |
| NM_001126112.2:c.-29+1384C>G | ||
| NM_001276760.1:c.-29+1384C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.273 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | schizophrenia | Though rs1042522 and rs8064946 did not show positive association with schizophre... | BeFree | 15450681 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Though rs1042522 and rs8064946 did not show positive association with schizophrenia, we did observe ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs8064946 dbSNP
- Genome
- hg38
- Position
- chr17:7,685,993-7,685,993
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- 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))
- rs8064946
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2735
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4584
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser