chr6:32182519:C>A Detail (hg38) (AGER)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,150,296-32,150,296 View the variant detail on this assembly version. |
| hg38 | chr6:32,182,519-32,182,519 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_172197.2:c.809+20G>T | |
| NM_001206929.1:c.870+49G>T | ||
| NM_001136.4:c.822+49G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.108 |
| ToMMo:0.110 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.176 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2023-08-10 | no assertion criteria provided | COPD, severe early onset |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001136.5(AGER):c.822+49G>T AND COPD, severe early onset | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr6:32,182,519-32,182,519
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 799
- Mean of sample read depth (HGVD)
- 236.22
- Standard deviation of sample read depth (HGVD)
- 109.49
- Number of reference allele (HGVD)
- 1425
- Number of alternative allele (HGVD)
- 173
- Allele Frequency (HGVD)
- 0.10826032540675845
- Gene Symbol (HGVD)
- AGER
- 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))
- rs184003
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1103
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1848
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8500
- East Asian Allele Counts (ExAC)
- 1495
- East Asian Heterozygous Counts (ExAC)
- 1213
- East Asian Homozygous Counts (ExAC)
- 141
- East Asian Allele Frequency (ExAC)
- 0.17588235294117646
- Chromosome Counts in All Race (ExAC)
- 114116
- Allele Counts in All Race (ExAC)
- 14692
- Heterozygous Counts in All Race (ExAC)
- 11752
- Homozygous Counts in All Race (ExAC)
- 1470
- Allele Frequency in All Race (ExAC)
- 0.12874618808931262
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