chr11:128311059:G>A Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:128,311,059-128,311,059 |
| hg38 | chr11:128,441,164-128,441,164 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.398 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.254 | Lupus Erythematosus, Systemic | [Genome-wide association study in a Chinese Han population identifies nine new s... | GAD | 19838193 | Detail |
| 0.007 | Lupus Erythematosus, Systemic | We propose a model in which the risk allele of rs6590330 is associated with decr... | BeFree | 25865496 | Detail |
| 0.250 | Lupus Erythematosus, Systemic | Significant associations were found for the single nucleotide polymorphism rs100... | BeFree | 20516000 | Detail |
| 0.246 | Lupus Erythematosus, Systemic | Significant associations were found for the single nucleotide polymorphism rs100... | BeFree | 20516000 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci f... | DisGeNET | Detail |
| We propose a model in which the risk allele of rs6590330 is associated with decreased ETS1 expressio... | DisGeNET | Detail |
| Significant associations were found for the single nucleotide polymorphism rs10036748 of TNIP1 with ... | DisGeNET | Detail |
| Significant associations were found for the single nucleotide polymorphism rs10036748 of TNIP1 with ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs6590330 dbSNP
- Genome
- hg19
- Position
- chr11:128,311,059-128,311,059
- 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))
- rs6590330
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.398
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6670
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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