chr11:116829453:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:116,700,169-116,700,169 View the variant detail on this assembly version. |
| hg38 | chr11:116,829,453-116,829,453 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.542 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | Fatty Liver | The PNPLA3, but not the APOC3 rs2854116 SNP, was associated with fatty liver but... | BeFree | 22105854 | Detail |
| 0.265 | Non-alcoholic Fatty Liver Disease | Genotypes for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin... | BeFree | 24707151 | Detail |
| 0.002 | Non-alcoholic Fatty Liver Disease | Apolipoprotein C3 (APOC3) is a component of triglyceride-rich lipoproteins, and ... | BeFree | 21663607 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The PNPLA3, but not the APOC3 rs2854116 SNP, was associated with fatty liver but not with triglyceri... | DisGeNET | Detail |
| Genotypes for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin-like phospholipase ... | DisGeNET | Detail |
| Apolipoprotein C3 (APOC3) is a component of triglyceride-rich lipoproteins, and APOC3 rs2854116 and ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2854116 dbSNP
- Genome
- hg38
- Position
- chr11:116,829,453-116,829,453
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs2854116
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5421
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9083
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16756
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