chr7:128594183:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:128,594,183-128,594,183 |
| hg38 | chr7:128,954,129-128,954,129 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | 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 |
|---|---|---|---|---|---|
| 0.009 | Biliary cirrhosis | [Our data show significant associations between primary biliary cirrhosis and co... | GAD | 19458352 | Detail |
| 0.007 | Biliary cirrhosis | [Our data show significant associations between primary biliary cirrhosis and co... | GAD | 19458352 | Detail |
| 0.127 | systemic scleroderma | Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for sys... | GWASCAT | 21750679 | Detail |
| 0.002 | Sclerosis | [Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for sy... | GAD | 21750679 | Detail |
| 0.002 | Sclerosis | [Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for sy... | GAD | 21750679 | Detail |
| 0.143 | systemic scleroderma | [Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 1... | GAD | 20383147 | Detail |
| 0.235 | Lupus Erythematosus, Systemic | [SNPs in the previously identified SLE susceptibility loci STAT4, IRF5, ITGAM, a... | GAD | 21408207 | Detail |
| 0.130 | Lupus Erythematosus, Systemic | Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. | GWASCAT | 18204098 | Detail |
| 0.143 | systemic scleroderma | [Identification of novel genetic markers associated with clinical phenotypes of ... | GAD | 21779181 | Detail |
| 0.257 | systemic scleroderma | Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), ... | BeFree | 22440820 | Detail |
| 0.130 | Lupus Erythematosus, Systemic | Differential genetic associations for systemic lupus erythematosus based on anti... | GWASCAT | 21408207 | Detail |
| 0.130 | Lupus Erythematosus, Systemic | GWAS identifies novel SLE susceptibility genes and explains the association of t... | GWASCAT | 24871463 | Detail |
| 0.127 | systemic scleroderma | Genome-wide association study of systemic sclerosis identifies CD247 as a new su... | GWASCAT | 20383147 | Detail |
| 0.130 | Lupus Erythematosus, Systemic | [Differential genetic associations for systemic lupus erythematosus based on ant... | GAD | 21408207 | Detail |
| 0.282 | rheumatoid arthritis | [Genome-wide association study meta-analysis identifies seven new rheumatoid art... | GAD | 20453842 | Detail |
| 0.127 | systemic scleroderma | [Identification of novel genetic markers associated with clinical phenotypes of ... | GAD | 21779181 | Detail |
| 0.130 | Lupus Erythematosus, Systemic | NA | GAD | Detail | |
| 0.130 | Lupus Erythematosus, Systemic | [We identified and then confirmed through replication two new genetic loci for S... | GAD | 18204098 | Detail |
| 0.127 | systemic scleroderma | [Genome-wide association study of systemic sclerosis identifies CD247 as a new s... | GAD | 20383147 | Detail |
| 0.241 | Primary biliary cirrhosis | Genome-wide meta-analyses identify three loci associated with primary biliary ci... | GWASCAT | 20639880 | Detail |
| 0.282 | rheumatoid arthritis | One insertion-deletion polymorphism (CGGGG indel) and one single-nucleotide poly... | BeFree | 21807777 | Detail |
| 0.122 | rheumatoid arthritis | [Genome-wide association study meta-analysis identifies seven new rheumatoid art... | GAD | 20453842 | Detail |
| 0.007 | Biliary cirrhosis | [Genome-wide meta-analyses identify three loci associated with primary biliary c... | GAD | 20639880 | Detail |
| 0.009 | Biliary cirrhosis | [Genome-wide meta-analyses identify three loci associated with primary biliary c... | GAD | 20639880 | Detail |
| 0.241 | Primary biliary cirrhosis | Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. | GWASCAT | 19458352 | Detail |
| 0.127 | systemic scleroderma | Identification of novel genetic markers associated with clinical phenotypes of s... | GWASCAT | 21779181 | Detail |
| 0.122 | rheumatoid arthritis | Genome-wide association study meta-analysis identifies seven new rheumatoid arth... | GWASCAT | 20453842 | Detail |
| 0.246 | systemic scleroderma | Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), ... | BeFree | 22440820 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [Our data show significant associations between primary biliary cirrhosis and common genetic variant... | DisGeNET | Detail |
| [Our data show significant associations between primary biliary cirrhosis and common genetic variant... | DisGeNET | Detail |
| Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. | DisGeNET | Detail |
| [Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.] | DisGeNET | Detail |
| [Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.] | DisGeNET | Detail |
| [Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10(-18)), IRF5 (P = 1... | DisGeNET | Detail |
| [SNPs in the previously identified SLE susceptibility loci STAT4, IRF5, ITGAM, and the major histoco... | DisGeNET | Detail |
| Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. | DisGeNET | Detail |
| [Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis t... | DisGeNET | Detail |
| Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), C... | DisGeNET | Detail |
| Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody ... | DisGeNET | Detail |
| GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. | DisGeNET | Detail |
| Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. | DisGeNET | Detail |
| [Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody... | DisGeNET | Detail |
| [Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.] | DisGeNET | Detail |
| [Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis t... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| [We identified and then confirmed through replication two new genetic loci for SLE: a promoter-regio... | DisGeNET | Detail |
| [Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.... | DisGeNET | Detail |
| Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. | DisGeNET | Detail |
| One insertion-deletion polymorphism (CGGGG indel) and one single-nucleotide polymorphism (rs10488631... | DisGeNET | Detail |
| [Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.] | DisGeNET | Detail |
| [Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.] | DisGeNET | Detail |
| [Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.] | DisGeNET | Detail |
| Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. | DisGeNET | Detail |
| Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis th... | DisGeNET | Detail |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. | DisGeNET | Detail |
| Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), C... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs10488631 dbSNP
- Genome
- hg19
- Position
- chr7:128,594,183-128,594,183
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser