chr17:5435739:G>A Detail (hg38) (C1QBP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:5,339,059-5,339,059 View the variant detail on this assembly version. |
| hg38 | chr17:5,435,739-5,435,739 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001212.3:c.384-773C>T | |
| Ensemble | ENST00000225698.8:c.384-773C>T | |
| ENST00000574444.5:c.72-773C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.621 | |
| 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
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Four risk single-nucleotide polymorphisms were significantly (p<0.0001) associated with severe pn... | DisGeNET | Detail |
| Four risk single-nucleotide polymorphisms were significantly (p<0.0001) associated with severe pn... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3786054 dbSNP
- Genome
- hg38
- Position
- chr17:5,435,739-5,435,739
- 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))
- rs3786054
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6213
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10413
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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