rs35705950
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| (G;T) | 4.4 | Possible miscall in Ancestry v2d data; otherwise, moderately (>5x) higher risk for lung issues (fibrosis or pneumonia) |
| (T;T) | 5.8 | Significantly higher (>10x) risk for lung issues (fibrosis or pneumonia) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 1219991 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35705950 |
| dbSNP (classic) | rs35705950 |
| ClinGen | rs35705950 |
| ebi | rs35705950 |
| HLI | rs35705950 |
| Exac | rs35705950 |
| Gnomad | rs35705950 |
| Varsome | rs35705950 |
| LitVar | rs35705950 |
| Map | rs35705950 |
| PheGenI | rs35705950 |
| Biobank | rs35705950 |
| 1000 genomes | rs35705950 |
| hgdp | rs35705950 |
| ensembl | rs35705950 |
| geneview | rs35705950 |
| scholar | rs35705950 |
| rs35705950 | |
| pharmgkb | rs35705950 |
| gwascentral | rs35705950 |
| openSNP | rs35705950 |
| 23andMe | rs35705950 |
| SNPshot | rs35705950 |
| SNPdbe | rs35705950 |
| MSV3d | rs35705950 |
| GWAS Ctlg | rs35705950 |
| GMAF | 0.05234 |
| Max Magnitude | 5.8 |
rs35705950 is a SNP located 3 kb upstream of the start of transcription from the mucin 5B MUC5B gene.
Two independent research groups both published articles in April 2011 associating the minor (T) allele of rs35705950 with highly increased risk for interstitial pneumonia and/or pulmonary fibrosis.
For interstitial pneumonia, the odds ratio for heterozygotes was 6.8 (CI: 3.9 - 12.0) and for homozygotes, 20.8 (CI: 3.8 - 113.7).[PMID 21506741
]
For pulmonary fibrosis, the reported odds ratios for heterozygotes and homozygotes in one study were 9.0 (CI: 6.2 to 13.1) and 21.8 (CI: 5.1 to 93.5), respectively, and were 5.9 (CI: 4.4 - 7.8) and 9.7 (CI: 4.7 - 19.9) in the other.[PMID 21506741][PMID 21506748]
[PMID 23698811] MUC5B Promoter Variant Is Not Associated With Myositis-Related Interstitial Lung Disease
| GWAS snp | |
|---|---|
| PMID | [PMID 23940607]
|
| Trait | Idiopathic pulmonary fibrosis |
| Title | The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population |
| Risk Allele | |
| P-val | |
| Odds Ratio | |
| GWAS snp | |
|---|---|
| PMID | [PMID 24429156]
|
| Trait | Idiopathic pulmonary fibrosis |
| Title | Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study |
| Risk Allele | |
| P-val | |
| Odds Ratio | |
[PMID 24434656] Association between MUC5 B and TERT polymorphisms and different interstitial lung disease phenotypes
[PMID 23321605] Mucin 5B promoter polymorphism is associated with idiopathic pulmonary fibrosis but not with development of lung fibrosis in systemic sclerosis or sarcoidosis.
[PMID 23692170] MUC5B promoter polymorphism and interstitial lung abnormalities.
[PMID 23695349] Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis.
[PMID 25184687] The Role of Bacteria in the Pathogenesis and Progression of Idiopathic Pulmonary Fibrosis
[PMID 25192356] Genome Sequencing of Idiopathic Pulmonary Fibrosis in Conjunction with a Medical School Human Anatomy Course
[PMID 25275363] The MUC5B promoter polymorphism is associated with IPF in a Mexican cohort but is rare among Asian ancestries
| ClinVar | |
|---|---|
| Risk | rs35705950(A;A) Rs35705950(T;T) |
| Alt | rs35705950(A;A) Rs35705950(T;T) |
| Reference | Rs35705950(G;G) |
| Significance | Other |
| Disease | Pulmonary fibrosis Idiopathic fibrosing alveolitis |
| Variation | info |
| Gene | |
| CLNDBN | [[ClinVar CLNDBN::Pulmonary fibrosis, idiopathic, susceptibility to]] Idiopathic fibrosing alveolitis, chronic form |
| Reversed | 0 |
| HGVS | NC_000011.9:g.1241221G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023036.3, RCV000151031.2, |
[PMID 25926289] A meta-analysis examining the association between the MUC5B rs35705950 T/G polymorphism and susceptibility to idiopathic pulmonary fibrosis
[PMID 26512610] Association Between the MUC5B Promoter Polymorphism rs35705950 and Idiopathic Pulmonary Fibrosis: A Meta-analysis and Trial Sequential Analysis in Caucasian and Asian Populations
[PMID 26823827] Association between MUC5B polymorphism and susceptibility and severity of idiopathic pulmonary fibrosis.
[PMID 29920840] Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosis.
[PMID 32465357] Genotype in MUC5B-Promoter Polymorphism and Chronic Lung Allograft Dysfunction (CLAD) in a German Cohort: Preliminary Results.
[PMID 33076992] Association of TERT and DSP variants with microscopic polyangiitis and myeloperoxidase-ANCA positive vasculitis in a Japanese population: a genetic association study.
