chr11:125627571:G>T Detail (hg38) (CHEK1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:125,497,466-125,497,466 View the variant detail on this assembly version. |
| hg38 | chr11:125,627,571-125,627,571 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001330427.1:c.337+738G>T | |
| NM_001114121.2:c.66-36G>T | ||
| NM_001114122.2:c.66-36G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.364 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.466 |
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
[No Data.]
Annotation
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs491528 dbSNP
- Genome
- hg38
- Position
- chr11:125,627,571-125,627,571
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs491528
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3645
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6108
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 5884
- East Asian Allele Counts (ExAC)
- 2744
- East Asian Heterozygous Counts (ExAC)
- 1582
- East Asian Homozygous Counts (ExAC)
- 581
- East Asian Allele Frequency (ExAC)
- 0.4663494221617947
- Chromosome Counts in All Race (ExAC)
- 82598
- Allele Counts in All Race (ExAC)
- 28754
- Heterozygous Counts in All Race (ExAC)
- 19926
- Homozygous Counts in All Race (ExAC)
- 4414
- Allele Frequency in All Race (ExAC)
- 0.3481198091963486
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