chr11:1241221:G>T Detail (hg19) (MUC5B)

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

Frequency

JP HGVD:[No Data.]
ToMMo:0.004
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign; risk factor
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2013-06-06 no assertion criteria provided Pulmonary fibrosis, idiopathic, susceptibility to germline Detail
risk factor 2020-03-04 criteria provided, single submitter interstitial lung disease 2 germline Detail
Benign 2022-08-01 criteria provided, single submitter not provided germline Detail
Uncertain significance 2022-05-13 no assertion criteria provided Susceptibility to coronavirus disease (COVID-19) severity and mortality due to low plasma levels of MUC5B germline Detail
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

DescrptionSourceLinks
NM_002458.2(MUC5B):c.-3133G>T AND Pulmonary fibrosis, idiopathic, susceptibility to ClinVar Detail
NM_002458.2(MUC5B):c.-3133G>T AND Interstitial lung disease 2 ClinVar Detail
NM_002458.2(MUC5B):c.-3133G>T AND not provided ClinVar Detail
NM_002458.2(MUC5B):c.-3133G>T AND Susceptibility to coronavirus disease (COVID-19) severity and mort... ClinVar 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
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
T
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))
rs35705950
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0039
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
66
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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