chr7:128568960:A>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:128,568,960-128,568,960 |
| hg38 | chr7:128,928,906-128,928,906 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:0.282 | |
| 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 |
|---|---|---|---|---|---|
| 0.235 | Lupus Erythematosus, Systemic | The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T), which was reporte... | BeFree | 21239750 | Detail |
| 0.235 | Lupus Erythematosus, Systemic | [The genetic contribution towards predicting early-onset disease in patients wit... | GAD | 20881011 | Detail |
| <0.001 | rheumatoid arthritis | A significant association of the rs729302 A allele with RA susceptibility was fo... | BeFree | 18408250 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T), which was reported as conferring an i... | DisGeNET | Detail |
| [The genetic contribution towards predicting early-onset disease in patients with SLE is quantified ... | DisGeNET | Detail |
| A significant association of the rs729302 A allele with RA susceptibility was found in both sets (od... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs729302 dbSNP
- Genome
- hg19
- Position
- chr7:128,568,960-128,568,960
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- 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))
- rs729302
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2821
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4727
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
Genome browser