chr11:16802189:G>A Detail (hg38) (PLEKHA7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:16,823,736-16,823,736 View the variant detail on this assembly version. |
| hg38 | chr11:16,802,189-16,802,189 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_175058.4:c.2158-372C>T | |
| Ensemble | ENST00000355661.7:c.2158-372C>T | |
| ENST00000531066.6:c.2158-372C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.636 | |
| 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 |
|---|---|---|---|---|---|
| 0.120 | Angle Closure Glaucoma | Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 ... | BeFree | 24854855 | Detail |
| 0.120 | Angle Closure Glaucoma | Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 ... | BeFree | 24854855 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PL... | DisGeNET | Detail |
| Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PL... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs216489 dbSNP
- Genome
- hg38
- Position
- chr11:16,802,189-16,802,189
- 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))
- rs216489
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6362
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10662
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
Genome browser