chr8:73940162:A>G Detail (hg19) (TERF1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:73,940,162-73,940,162 |
| hg38 | chr8:73,027,927-73,027,927 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003218.3:c.887+875A>G | |
| NM_017489.2:c.887+875A>G | ||
| Ensemble | ENST00000276602.10:c.887+875A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| 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
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2... | DisGeNET | Detail |
| After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2981096 dbSNP
- Genome
- hg19
- Position
- chr8:73,940,162-73,940,162
- 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))
- rs2981096
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0006
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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