chr11:117091609:G>C Detail (hg19) (PCSK7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:117,091,609-117,091,609 |
| hg38 | chr11:117,220,893-117,220,893 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004716.3:c.1156-1135C>G | |
| Ensemble | ENST00000320934.8:c.1156-1135C>G | |
| ENST00000524507.6:c.1156-1135C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.409 | |
| 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 |
|---|---|---|---|---|---|
| 0.090 | liver cirrhosis | PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous ... | BeFree | 24556216 | Detail |
| 0.014 | Cirrhosis | PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous ... | BeFree | 24556216 | Detail |
| <0.001 | Cirrhosis | PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous ... | BeFree | 24556216 | Detail |
| <0.001 | obesity | PCSK7 rs236918 was genotyped in 730 overweight or obese adults (80% whites) in t... | BeFree | 25504030 | Detail |
| <0.001 | Overweight | PCSK7 rs236918 was genotyped in 730 overweight or obese adults (80% whites) in t... | BeFree | 25504030 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mu... | DisGeNET | Detail |
| PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mu... | DisGeNET | Detail |
| PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mu... | DisGeNET | Detail |
| PCSK7 rs236918 was genotyped in 730 overweight or obese adults (80% whites) in this trial. | DisGeNET | Detail |
| PCSK7 rs236918 was genotyped in 730 overweight or obese adults (80% whites) in this trial. | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs236918 dbSNP
- Genome
- hg19
- Position
- chr11:117,091,609-117,091,609
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- 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))
- rs236918
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4086
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6847
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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