chr7:128717906:G>A Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:128,717,906-128,717,906 |
| hg38 | chr7:129,077,852-129,077,852 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:<0.001 | |
| 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 |
|---|---|---|---|---|---|
| 0.125 | Lupus Erythematosus, Systemic | [Genome-wide association scan in women with systemic lupus erythematosus identif... | GAD | 18204446 | Detail |
| 0.130 | Lupus Erythematosus, Systemic | [Genome-wide association scan in women with systemic lupus erythematosus identif... | GAD | 18204446 | Detail |
| 0.125 | Lupus Erythematosus, Systemic | NA | GAD | Detail | |
| 0.257 | systemic scleroderma | Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), ... | BeFree | 22440820 | Detail |
| 0.246 | systemic scleroderma | Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), ... | BeFree | 22440820 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility v... | DisGeNET | Detail |
| [Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility v... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), C... | DisGeNET | Detail |
| Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), C... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs12537284 dbSNP
- Genome
- hg19
- Position
- chr7:128,717,906-128,717,906
- 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))
- rs12537284
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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