SFTPB, surfactant protein B, 6439

N. diseases: 108; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853202
rs137853202
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C1968602
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs1553380888
rs1553380888
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C1968602
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs1558572491
rs1558572491
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C1968602
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs35328240
rs35328240
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C1968602
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 1
TTC 0.700 CausalMutation CLINVAR
dbSNP: rs137853202
rs137853202
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C1968602
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 1
0.800 GeneticVariation UNIPROT Partial deficiency of surfactant protein B in an infant with chronic lung disease. 7491219 1995
dbSNP: rs779795223
rs779795223
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C1968602
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 1
GTT 0.700 CausalMutation CLINVAR A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. 8163685 1994
dbSNP: rs1130866
rs1130866
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn
0.030 GeneticVariation BEFREE We propose that the SP-B Ile131Thr polymorphism is a determinant for certain SP-A alleles as factors causing genetic susceptibility to RDS (6A(2), 1A(0)) or protection against it (6A(3), 1A(2)). 11063734 2000
dbSNP: rs1130866
rs1130866
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0035222
Disease:
Respiratory Distress Syndrome, Adult
0.010 GeneticVariation BEFREE Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS. 11076040 2000
dbSNP: rs1130866
rs1130866
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn
0.030 GeneticVariation BEFREE An association between the SP-B Ile131Thr polymorphism and RDS was found. 12483294 2003
dbSNP: rs1130866
rs1130866
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.030 GeneticVariation BEFREE In the Boston Early-Onset COPD Study families, significant associations with quantitative and/or qualitative COPD-related phenotypes were found for the tumor necrosis factor (TNF)-alpha -308G>A promoter polymorphism (P < 0.02), a coding variant in surfactant protein B (SFTPB Thr131Ile) (P = 0.03), and the (GT)(31) allele of the heme oxygenase (HMOX1) promoter short tandem repeat (P = 0.02). 15817713 2005
dbSNP: rs1130866
rs1130866
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn
0.030 GeneticVariation BEFREE The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS. 17142161 2006
dbSNP: rs1130866
rs1130866
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0231796
Disease:
respiratory abnormalities
0.010 GeneticVariation BEFREE The coding polymorphism (rs1130866) within the surfactant protein B gene is known to associate with certain respiratory abnormalities. 17540055 2007
dbSNP: rs1130866
rs1130866
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0206062
Disease:
Lung Diseases, Interstitial
0.010 GeneticVariation BEFREE Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease. 18263595 2008
dbSNP: rs1130866
rs1130866
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0036421
Disease:
Systemic Scleroderma
0.010 GeneticVariation BEFREE Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease. 18263595 2008
dbSNP: rs3024791
rs3024791
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.020 GeneticVariation BEFREE Logistic regression models, analysing a binary outcome of presence or absence of exacerbations, confirmed the association of rs3024791 with COPD exacerbations. 18550614 2008
dbSNP: rs1130866
rs1130866
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.030 GeneticVariation BEFREE In conclusion, the functional rs1130866, rs2077079 and rs3024791 polymorphisms in the SP-B gene are not associated with reduced lung function or risk of COPD, making it unlikely that these variants will be useful in personalised medicine. 20693256 2011
dbSNP: rs3024791
rs3024791
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.020 GeneticVariation BEFREE In conclusion, the functional rs1130866, rs2077079 and rs3024791 polymorphisms in the SP-B gene are not associated with reduced lung function or risk of COPD, making it unlikely that these variants will be useful in personalised medicine. 20693256 2011
dbSNP: rs2077079
rs2077079
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE In conclusion, the functional rs1130866, rs2077079 and rs3024791 polymorphisms in the SP-B gene are not associated with reduced lung function or risk of COPD, making it unlikely that these variants will be useful in personalised medicine. 20693256 2011
dbSNP: rs779795223
rs779795223
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C1968602
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 1
GTT 0.700 CausalMutation CLINVAR Interstitial lung disease in a child heterozygous for the 1549C-->GAA (121ins2) mutation of surfactant protein B. 21965505 2011
dbSNP: rs779795223
rs779795223
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C1968602
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 1
GTT 0.700 CausalMutation CLINVAR Genetic testing in children with surfactant dysfunction. 23625987 2013
dbSNP: rs1130866
rs1130866
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.030 GeneticVariation BEFREE The SFTPB exon polymorphism rs1130866 significantly protected subjects from COPD (adjusted P = 0.004) and was associated with an increase in forced expiratory volume in 1 s (FEV(1)) (adjusted P = 0.014). 25299874 2014
dbSNP: rs779795223
rs779795223
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C1968602
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 1
GTT 0.700 CausalMutation CLINVAR Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature. 26199800 2015
dbSNP: rs1130866
rs1130866
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0032285
Disease:
Pneumonia
0.010 GeneticVariation BEFREE Previous studies have indicated that a SP-B 1580C/T polymorphism (SNP rs1130866) was associated with lung diseases including pneumonia. 26620227 2016
dbSNP: rs1130866
rs1130866
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0024115
Disease:
Lung diseases
0.010 GeneticVariation BEFREE Previous studies have indicated that a SP-B 1580C/T polymorphism (SNP rs1130866) was associated with lung diseases including pneumonia. 26620227 2016
dbSNP: rs7316
rs7316
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn
0.010 GeneticVariation BEFREE This is the first report of association of SFTPB rs7316 polymorphism with RDS development in Iranian newborns. 28738720 2018