chr10:94310618:A>G Detail (hg38) (PLCE1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:96,070,375-96,070,375 View the variant detail on this assembly version. |
| hg38 | chr10:94,310,618-94,310,618 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001288989.1:c.6003+1919A>G | |
| NM_016341.3:c.6003+1919A>G | ||
| NM_001165979.2:c.4977+1919A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.221 | |
| 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 |
|---|---|---|---|---|---|
| 0.124 | Malignant neoplasm of stomach | A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastri... | BeFree | 20729852 | Detail |
| 0.122 | Stomach Neoplasms | [A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and ... | GAD | 20729852 | Detail |
| 0.128 | Malignant neoplasm of esophagus | A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and e... | GWASCAT | 20729852 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastric cancer (P = 8.40 x... | DisGeNET | Detail |
| [A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous ... | DisGeNET | Detail |
| A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous c... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3781264 dbSNP
- Genome
- hg38
- Position
- chr10:94,310,618-94,310,618
- 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))
- rs3781264
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2206
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3698
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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