chr8:142682272:G>A Detail (hg38) (PSCA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:143,763,690-143,763,690 View the variant detail on this assembly version. |
| hg38 | chr8:142,682,272-142,682,272 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005672.4:c.*140G>A | |
| Ensemble | ENST00000301258.5:c.*140G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.641 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.296 |
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 | gastric adenocarcinoma | Two SNPs of rs2294008 (C>T) and rs2976392 (G>A) were identified to be asso... | BeFree | 26006239 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Two SNPs of rs2294008 (C>T) and rs2976392 (G>A) were identified to be associated with GAC risk... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs10216533 dbSNP
- Genome
- hg38
- Position
- chr8:142,682,272-142,682,272
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs10216533
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6413
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10748
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 152
- East Asian Allele Counts (ExAC)
- 45
- East Asian Heterozygous Counts (ExAC)
- 29
- East Asian Homozygous Counts (ExAC)
- 8
- East Asian Allele Frequency (ExAC)
- 0.29605263157894735
- Chromosome Counts in All Race (ExAC)
- 11268
- Allele Counts in All Race (ExAC)
- 5263
- Heterozygous Counts in All Race (ExAC)
- 2803
- Homozygous Counts in All Race (ExAC)
- 1230
- Allele Frequency in All Race (ExAC)
- 0.46707490237841676
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