Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1221395132
rs1221395132
IRF7 ; PHRF1
0.010 GeneticVariation BEFREE Spontaneous lung disease in STING N153S mice develops independently of type I interferon signaling and cGAS. 30772497

2019
dbSNP: rs2070600
rs2070600
AGER
0.010 GeneticVariation BEFREE The rs2070600 SNP may be associated with the development of human autoimmune disease, diabetes complications, cancer, and lung diseases such as chronic obstructive pulmonary disease and acute respiratory distress syndrome. 30863465

2019
dbSNP: rs35169799
rs35169799
PLCB3
0.010 GeneticVariation BEFREE To identify novel antiinflammatory molecular targets, we previously performed a genetic study of 135 genes of the immune response, which identified the c.2534C>T (p.S845L) variant of phospholipase C-β3 (PLCB3) as being significantly associated with mild progression of pulmonary disease. 29668297

2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
0.010 GeneticVariation BEFREE MATERIAL AND METHODS The XRCC1 gene T-77C, Arg194Trp, Arg280His, Arg399Gln, COMT gene 186C>T, and Val158Met mutations were evaluated in peripheral blood collected from 261 non-smoking female patients diagnosed with primary lung cancer and 265 female patients with benign lung disease. 30109864

2018
dbSNP: rs1130866
rs1130866
SFTPB
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: rs2227306
rs2227306
CXCL8
0.010 GeneticVariation BEFREE The severity of lung disease was associated with the following markers: transcutaneous arterial hemoglobin oxygen saturation (SaO2) (regardless of CFTR genotype, for the polymorphisms rs4073, rs2227306 and rs2227307); mucoid Pseudomonas aeruginosa (regardless of CFTR genotype, for the polymorphisms rs2227306 and rs2227307). 27209008

2016
dbSNP: rs2227307
rs2227307
CXCL8
0.010 GeneticVariation BEFREE The severity of lung disease was associated with the following markers: transcutaneous arterial hemoglobin oxygen saturation (SaO2) (regardless of CFTR genotype, for the polymorphisms rs4073, rs2227306 and rs2227307); mucoid Pseudomonas aeruginosa (regardless of CFTR genotype, for the polymorphisms rs2227306 and rs2227307). 27209008

2016
dbSNP: rs4073
rs4073
CXCL8
0.010 GeneticVariation BEFREE The severity of lung disease was associated with the following markers: transcutaneous arterial hemoglobin oxygen saturation (SaO2) (regardless of CFTR genotype, for the polymorphisms rs4073, rs2227306 and rs2227307); mucoid Pseudomonas aeruginosa (regardless of CFTR genotype, for the polymorphisms rs2227306 and rs2227307). 27209008

2016
dbSNP: rs1078761
rs1078761
BPIFB1
0.010 GeneticVariation BEFREE We interrogated BPIFA1/BPIFB1 single-nucleotide polymorphisms in data from an association study of CF modifier genes and found an association of the G allele of rs1078761 with increased lung disease severity (P = 2.71 × 10(-4)). 25574903

2015
dbSNP: rs1965708
rs1965708
SFTPA2
0.010 GeneticVariation BEFREE Humans express a repertoire of single-amino acid genetic variants of SP-A that may be associated with lung disease, and our findings demonstrate that allelic differences in SP-A2 (Gln223Lys) affect the binding to MMF. 25957169

2015
dbSNP: rs1022113606
rs1022113606
SOD3
0.010 GeneticVariation BEFREE These findings account for the discrepant risk associated with R213G in humans with lung diseases compared with cardiovascular diseases. 25085920

2014
dbSNP: rs17563161
rs17563161
SLC9A3
0.010 GeneticVariation BEFREE SLC26A9 was pleiotropic for meconium ileus and pancreatic damage (p = 0.002 at rs7512462), SLC9A3 for meconium ileus and lung disease (p = 1.5 × 10(-6) at rs17563161), and SLC6A14 for meconium ileus and both lung disease and age at first P. aeruginosa infection (p = 0.0002 and p = 0.006 at rs3788766, respectively). 24057835

2014
dbSNP: rs1799895
rs1799895
SOD3
0.010 GeneticVariation BEFREE These findings account for the discrepant risk associated with R213G in humans with lung diseases compared with cardiovascular diseases. 25085920

2014
dbSNP: rs1800076
rs1800076
CFTR
0.010 GeneticVariation BEFREE To investigate the role of p.Arg75Gln in idiopathic chronic pancreatitis (ICP), we performed genotyping of the CFTR gene in 880 patients with ICP, 198 patients with idiopathic bronchiectasis (IB), 74 patients with classical cystic fibrosis (CF), 48 patients with congenital bilateral absence of the vas deferens (CBAVD) and 148 healthy controls. p.Arg75Gln variant was identified in 3.3% (29/880) of patients with ICP, 3.3% (9/272) patients with a pulmonary disease, 2.1% (1/48) of patients with CBAVD and 4.7% (7/148) of healthy controls. 24451227

2014
dbSNP: rs35829419
rs35829419
NLRP3
0.010 GeneticVariation BEFREE Our results support the hypothesis that the NLRP3 inflammasome is important in the development of fibrotic lung disease by associating the NLRP3 rs35829419 variant allele with increased risk of asbestos-related interstitial lung fibrosis, and the TGFB1 rs2241718 variant allele with decreased risk of asbestos-related VPF. 24142982

2014
dbSNP: rs3788766
rs3788766
SLC6A14
0.010 GeneticVariation BEFREE SLC26A9 was pleiotropic for meconium ileus and pancreatic damage (p = 0.002 at rs7512462), SLC9A3 for meconium ileus and lung disease (p = 1.5 × 10(-6) at rs17563161), and SLC6A14 for meconium ileus and both lung disease and age at first P. aeruginosa infection (p = 0.0002 and p = 0.006 at rs3788766, respectively). 24057835

2014
dbSNP: rs7512462
rs7512462
SLC26A9
0.010 GeneticVariation BEFREE SLC26A9 was pleiotropic for meconium ileus and pancreatic damage (p = 0.002 at rs7512462), SLC9A3 for meconium ileus and lung disease (p = 1.5 × 10(-6) at rs17563161), and SLC6A14 for meconium ileus and both lung disease and age at first P. aeruginosa infection (p = 0.0002 and p = 0.006 at rs3788766, respectively). 24057835

2014
dbSNP: rs761711628
rs761711628
SERPINA1
0.010 GeneticVariation BEFREE We report the results of the functional analysis of two naturally occurring AAT variants, G320R and V321F, previously identified in patients with lung disease. 24969485

2014
dbSNP: rs113857788
rs113857788
CFTR
0.010 GeneticVariation BEFREE Q1352H appears to be strongly related to NTM lung disease susceptibility in the Korean population. 23514810

2013
dbSNP: rs3804100
rs3804100
TLR2
0.010 GeneticVariation BEFREE Variant alleles of polymorphisms of TLR2 rs1898830, rs5743708, and rs3804100 demonstrated a consistent association with lung disease severity (p = 0.008, p = 0.006 and p = 0.029 respectively). 23994582

2013
dbSNP: rs5743708
rs5743708
TLR2
0.010 GeneticVariation BEFREE Variant alleles of polymorphisms of TLR2 rs1898830, rs5743708, and rs3804100 demonstrated a consistent association with lung disease severity (p = 0.008, p = 0.006 and p = 0.029 respectively). 23994582

2013
dbSNP: rs662
rs662
PON1
0.010 GeneticVariation BEFREE Assessing the relationship of paraoxonase-1 Q192R polymorphisms and the severity of lung disease in SM-exposed patients. 23672526

2013
dbSNP: rs778055276
rs778055276
PARP9 ; LOC105374071
0.010 GeneticVariation BEFREE Assessing the relationship of paraoxonase-1 Q192R polymorphisms and the severity of lung disease in SM-exposed patients. 23672526

2013
dbSNP: rs113488022
rs113488022
BRAF
0.010 GeneticVariation BEFREE CT restaging confirmed clinical findings of deteriorating pulmonary disease; histological review revealed V600E BRAF mutation. 22744255

2012
dbSNP: rs121913377
rs121913377
BRAF
0.010 GeneticVariation BEFREE CT restaging confirmed clinical findings of deteriorating pulmonary disease; histological review revealed V600E BRAF mutation. 22744255

2012