RS11971167 CFTR
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What This Variant Does
"Cystic fibrosis
Associated Conditions
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
ivacaftor response - Efficacy
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
ivacaftor response - Efficacy
Cystic fibrosis
Population Frequencies
gnomAD ALL
0%
1kG AFR
98.2%
1kG ALL
99.5%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in CFTR