Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35705950
rs35705950
0.050 GeneticVariation BEFREE This region is differentially methylated in association with idiopathic pulmonary fibrosis, MUC5B expression, and rs35705950. 28272906

2017

dbSNP: rs35705950
rs35705950
0.050 GeneticVariation BEFREE A meta-analysis examining the association between the MUC5B rs35705950 T/G polymorphism and susceptibility to idiopathic pulmonary fibrosis. 25926289

2016

dbSNP: rs35705950
rs35705950
0.050 GeneticVariation BEFREE The T allele at rs35705950 predicts a UIP diagnosis by both chest CT scan and histology. 25317858

2015

dbSNP: rs35705950
rs35705950
0.050 GeneticVariation BEFREE A common promoter polymorphism (rs35705950) in MUC5B, the gene encoding mucin 5B, is associated with idiopathic pulmonary fibrosis. 23692170

2013

dbSNP: rs35705950
rs35705950
0.050 GeneticVariation BEFREE The minor-allele of the single-nucleotide polymorphism (SNP) rs35705950, located 3 kb upstream of the MUC5B transcription start site, was present at a frequency of 34% among subjects with familial interstitial pneumonia, 38% among subjects with idiopathic pulmonary fibrosis, and 9% among controls (allelic association with familial interstitial pneumonia, P=1.2×10(-15); allelic association with idiopathic pulmonary fibrosis, P=2.5×10(-37)). 21506741

2011

dbSNP: rs3775291
rs3775291
0.010 GeneticVariation BEFREE The Toll-like receptor 3 L412F polymorphism and disease progression in idiopathic pulmonary fibrosis. 24070541

2014

dbSNP: rs2305619
rs2305619
0.010 GeneticVariation BEFREE The minor allele of rs2305619 was significantly associated with higher plasma PTX3 levels measured pretransplantation (P = 0.014) and at 24 hours (P = 0.047) after transplantation in patients with idiopathic pulmonary fibrosis. 22822025

2012

dbSNP: rs4073
rs4073
0.010 GeneticVariation BEFREE A promoter SNP rs4073T>A in the common allele of the interleukin 8 gene is associated with the development of idiopathic pulmonary fibrosis via the IL-8 protein enhancing mode. 21649933

2011

dbSNP: rs7574865
rs7574865
0.010 GeneticVariation BEFREE Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA. 21149496

2011

dbSNP: rs8182352
rs8182352
0.010 GeneticVariation BEFREE Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA. 21149496

2011

dbSNP: rs121917834
rs121917834
0.010 GeneticVariation BEFREE A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation. 20371530

2010

dbSNP: rs5029939
rs5029939
0.010 GeneticVariation BEFREE The strongest associations of rs5029939 with subphenotypes, having large magnitudes for complex genetic disorders, were observed for diffuse cutaneous SSc (pooled OR=2.71 (1.94 to 3.79), p=5.2×10⁻⁹), fibrosing alveolitis (pooled OR=2.26 (1.61 to 3.17), p=2.5×10⁻⁶) and pulmonary arterial hypertension (pooled OR=3.11 (1.86 to 5.17), p=1.3×10⁻⁵). 20511617

2010

dbSNP: rs2004640
rs2004640
0.010 GeneticVariation BEFREE In a multivariate analysis model including the diffuse cutaneous subtype of SSc and positivity for anti-topoisomerase I antibodies, the IRF5 rs2004640 TT genotype remained associated with fibrosing alveolitis (P=0.029, OR 1.92, 95% CI 1.07-3.44). 19116937

2009