Gene: CFTR ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993959
rs113993959
CFTR
T 0.700 CausalMutation CLINVAR

dbSNP: rs74597325
rs74597325
CFTR
T 0.700 CausalMutation CLINVAR

dbSNP: rs1800076
rs1800076
CFTR
0.020 GeneticVariation BEFREE As it is known that certain CFTR variants have consequences on the function of CFTR protein, the aim of this study was to examine the possible role of F508del, M470V, Tn locus, and R75Q variants in COPD development and modulation. 18652532

2008
dbSNP: rs1800076
rs1800076
CFTR
0.020 GeneticVariation BEFREE The R75Q was significantly overrepresented in COPD patients (8.06%; P = 0.002). 15463907

2004
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
0.010 GeneticVariation BEFREE The CFTR M470V gene variant as a potential modifier of COPD severity: study of Serbian population. 18652532

2008