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rs35705950

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35705950(G;T)
Make rs35705950(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position1219991
is asnp
is mentioned by
dbSNPrs35705950
ebirs35705950
HLIrs35705950
Exacrs35705950
Varsomers35705950
Maprs35705950
PheGenIrs35705950
hapmaprs35705950
1000 genomesrs35705950
hgdprs35705950
ensemblrs35705950
gopubmedrs35705950
geneviewrs35705950
scholarrs35705950
googlers35705950
pharmgkbrs35705950
gwascentralrs35705950
openSNPrs35705950
23andMers35705950
23andMe allrs35705950
SNP Nexus

SNPshotrs35705950
SNPdbers35705950
MSV3drs35705950
GWAS Ctlgrs35705950
GMAF0.05234
Max Magnitude0
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 21506741OA-icon.png]

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 21506741OA-icon.png][PMID 21506748OA-icon.png]

[PMID 23698811] MUC5B Promoter Variant Is Not Associated With Myositis-Related Interstitial Lung Disease

[PMID 23940607OA-icon.png] The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population

[PMID 24429156OA-icon.png] Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study

[PMID 24434656OA-icon.png] 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 23692170OA-icon.png] MUC5B promoter polymorphism and interstitial lung abnormalities.


[PMID 23695349OA-icon.png] Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis.

[PMID 25184687OA-icon.png] The Role of Bacteria in the Pathogenesis and Progression of Idiopathic Pulmonary Fibrosis

[PMID 25192356OA-icon.png] 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,T;A,T)
Alt rs35705950(A,T;A,T)
Reference rs35705950(G;G)
Significance Other
Disease Pulmonary fibrosis Idiopathic fibrosing alveolitis
Variation info
Gene
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.