rs78655421, CFTR

N. diseases: 17
Disease: Lung diseases ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lung diseases
CUI: C0024115
Disease: Lung diseases
0.040 GeneticVariation BEFREE The "mild" gene variant, p.Arg117His in cystic fibrosis (CF) results in highly variable phenotypes ranging from male infertility to severe lung disease. 30279124 2019
Lung diseases
CUI: C0024115
Disease: Lung diseases
0.040 GeneticVariation BEFREE We present a case demonstrating a substantial therapeutic effect of ivacaftor in a CF patient with genotype F508del/R117H and advanced lung disease. 25698453 2015
Lung diseases
CUI: C0024115
Disease: Lung diseases
0.040 GeneticVariation BEFREE Patients with two identified CFTR mutations which include the R117H/7T anomaly should be followed up routinely as they remain susceptible to severe lung disease. 16266832 2006
Lung diseases
CUI: C0024115
Disease: Lung diseases
0.040 GeneticVariation BEFREE The 5T allele in intron 8 (IVS8) causes abnormal splicing in the CFTR gene, and is associated with lung disease when it occurs in cis with a missense mutation in the CFTR gene, R117H. 11069835 2000