Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1396171148
rs1396171148
FARSB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1419129874
rs1419129874
FARSB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1466642025
rs1466642025
FARSB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553553086
rs1553553086
FARSB
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553554543
rs1553554543
FARSB
C 0.700 CausalMutation CLINVAR

dbSNP: rs35705950
rs35705950 		0.040 GeneticVariation BEFREE Leukocyte telomere length (LTL), <i>MUC5B</i> rs35705950 and <i>TOLLIP</i> rs5743890 have been associated with idiopathic pulmonary fibrosis (IPF).In this observational cohort study, we assessed the associations between these genomic markers and outcomes of survival and rate of disease progression in patients with interstitial pneumonia with autoimmune features (IPAF, n=250) and connective tissue disease-associated interstitial lung disease (CTD-ILD, n=248). 30635297

2019
dbSNP: rs35705950
rs35705950 		0.040 GeneticVariation BEFREE Sporadic IPF (spIPF, n = 115), FIP (n = 55), idiopathic non-specific interstitial pneumonia (iNSIP, n = 43), connective tissue disease associated interstitial pneumonia (CTD_IP, n = 35) and a control cohort (n = 249) were genotyped for rs35705950. 26699835

2016
dbSNP: rs35705950
rs35705950 		0.040 GeneticVariation BEFREE We recently identified a common variant in the promoter region of MUC5B (rs35705950) that has a significant effect on the risk of developing both familial and sporadic forms of IP. 22576636

2012
dbSNP: rs35705950
rs35705950 		0.040 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: rs5743890
rs5743890
TOLLIP
0.010 GeneticVariation BEFREE Leukocyte telomere length (LTL), <i>MUC5B</i> rs35705950 and <i>TOLLIP</i> rs5743890 have been associated with idiopathic pulmonary fibrosis (IPF).In this observational cohort study, we assessed the associations between these genomic markers and outcomes of survival and rate of disease progression in patients with interstitial pneumonia with autoimmune features (IPAF, n=250) and connective tissue disease-associated interstitial lung disease (CTD-ILD, n=248). 30635297

2019
dbSNP: rs1451499324
rs1451499324
BMP1 ; SFTPC
0.010 GeneticVariation BEFREE Genetic variations considered responsible were detected in six (67%) of the nine infants with ILD: three with hPAP (SFTPC p.Leu45Arg and p.Gln145fs, and ABCA3 p.Arg1583Trp/p.Val1495CysfsX21), two with interstitial pneumonitis (SFTPC p.Lys63Glu and p.Ser72Asn/p.Gly100Ala), and one with ACD/MPV (FOXF1 p.Leu300ArgfsX79). 25105258

2014
dbSNP: rs754831645
rs754831645
SFTPC
0.010 GeneticVariation BEFREE Genetic variations considered responsible were detected in six (67%) of the nine infants with ILD: three with hPAP (SFTPC p.Leu45Arg and p.Gln145fs, and ABCA3 p.Arg1583Trp/p.Val1495CysfsX21), two with interstitial pneumonitis (SFTPC p.Lys63Glu and p.Ser72Asn/p.Gly100Ala), and one with ACD/MPV (FOXF1 p.Leu300ArgfsX79). 25105258

2014