chr11:1241221:G>A Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:1,241,221-1,241,221 |
| hg38 | chr11:1,219,991-1,219,991 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 |
|---|---|---|---|---|---|
| 0.493 | Idiopathic Pulmonary Fibrosis | Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) ... | BeFree | 24434656 | Detail |
| 0.364 | Idiopathic Pulmonary Fibrosis | Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) ... | BeFree | 24434656 | Detail |
| 0.001 | Lung Diseases, Interstitial | Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) ... | BeFree | 24434656 | Detail |
| 0.001 | Lung Diseases, Interstitial | Whole genome sequencing thus corroborates the association of rs35705950 with MUC... | BeFree | 25192356 | Detail |
| 0.364 | Idiopathic Pulmonary Fibrosis | Baseline bacterial burden predicted the rate of decline in lung volume and risk ... | BeFree | 25184687 | Detail |
| <0.001 | Connective Tissue Diseases | A meta-analysis was conducted to determine associations between the MUC5B rs3570... | BeFree | 25926289 | Detail |
| 0.364 | Idiopathic Pulmonary Fibrosis | NA | CLINVAR | Detail | |
| 0.364 | Idiopathic Pulmonary Fibrosis | Association Between the MUC5B Promoter Polymorphism rs35705950 and Idiopathic Pu... | BeFree | 26512610 | Detail |
| 0.002 | pulmonary fibrosis | To determine whether the MUC5B promoter polymorphism (rs35705950), previously re... | BeFree | 23695349 | Detail |
| 0.364 | Idiopathic Pulmonary Fibrosis | A meta-analysis examining the association between the MUC5B rs35705950 T/G polym... | BeFree | 25926289 | Detail |
| 0.364 | Idiopathic Pulmonary Fibrosis | A common promoter polymorphism (rs35705950) in MUC5B, the gene encoding mucin 5B... | BeFree | 23692170 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) and IPF or non-IPF s... | DisGeNET | Detail |
| Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) and IPF or non-IPF s... | DisGeNET | Detail |
| Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) and IPF or non-IPF s... | DisGeNET | Detail |
| Whole genome sequencing thus corroborates the association of rs35705950 with MUC5B dysregulation and... | DisGeNET | Detail |
| Baseline bacterial burden predicted the rate of decline in lung volume and risk of death and associa... | DisGeNET | Detail |
| A meta-analysis was conducted to determine associations between the MUC5B rs35705950 T/G polymorphis... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association Between the MUC5B Promoter Polymorphism rs35705950 and Idiopathic Pulmonary Fibrosis: A ... | DisGeNET | Detail |
| To determine whether the MUC5B promoter polymorphism (rs35705950), previously reported to be associa... | DisGeNET | Detail |
| A meta-analysis examining the association between the MUC5B rs35705950 T/G polymorphism and suscepti... | DisGeNET | Detail |
| A common promoter polymorphism (rs35705950) in MUC5B, the gene encoding mucin 5B, is associated with... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs35705950 dbSNP
- Genome
- hg19
- Position
- chr11:1,241,221-1,241,221
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser