chr4:9935910:A>G Detail (hg19) (SLC2A9)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:9,935,910-9,935,910 |
| hg38 | chr4:9,934,286-9,934,286 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020041.2:c.814+7627T>C | |
| NM_001001290.1:c.727+7627T>C | ||
| Ensemble | ENST00000264784.8:c.814+7627T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.008 | |
| 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 | Phobia, Social | Further analyses using SLC2A9 rs6855911 variant, known to be strongly associated... | BeFree | 24204615 | Detail |
| 0.129 | hyperuricemia | The polymorphism rs6855911 in SLC2A9 may be a genetic marker to assess risk of h... | BeFree | 20972595 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Further analyses using SLC2A9 rs6855911 variant, known to be strongly associated with SUA, supported... | DisGeNET | Detail |
| The polymorphism rs6855911 in SLC2A9 may be a genetic marker to assess risk of hyperuricemia among C... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs6855911 dbSNP
- Genome
- hg19
- Position
- chr4:9,935,910-9,935,910
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs6855911
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0078
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 131
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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