chr5:168768351:G>A Detail (hg38) (SLIT3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:168,195,356-168,195,356 View the variant detail on this assembly version. |
| hg38 | chr5:168,768,351-168,768,351 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001271946.1:c.1459+4430C>T | |
| NM_003062.3:c.1459+4430C>T | ||
| Ensemble | ENST00000332966.8:c.1459+4430C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.502 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | myocardial infarction | The aim of this study was to examine whether miRNA polymorphisms (miR-146a rs291... | BeFree | 24850191 | Detail |
| <0.001 | Carcinogenesis | These findings indicate that pri-miR-218 rs11134527 and LAMB3 rs2566 may contrib... | BeFree | 20163849 | Detail |
| 0.030 | liver carcinoma | The AG genotype of pri-miR-218 rs11134527 A/G was associated with family history... | BeFree | 22011248 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The aim of this study was to examine whether miRNA polymorphisms (miR-146a rs2910164, miR-149 rs7142... | DisGeNET | Detail |
| These findings indicate that pri-miR-218 rs11134527 and LAMB3 rs2566 may contribute to cervical canc... | DisGeNET | Detail |
| The AG genotype of pri-miR-218 rs11134527 A/G was associated with family history (p=0.018, odds rati... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs11134527 dbSNP
- Genome
- hg38
- Position
- chr5:168,768,351-168,768,351
- 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))
- rs11134527
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.502
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8413
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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