RS1800100 CFTR
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Associated Conditions
Cystic fibrosis
Chronic sinusitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Lung disease
non-specific
CFTR-related disorder
Cystic fibrosis
Chronic sinusitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Lung disease
non-specific
Population Frequencies
gnomAD ALL
99.2%
1kG AFR
100%
1kG ALL
99.7%
1kG AMR
99.7%
1kG EAS
100%
1kG EUR
98.8%
1kG SAS
100%
Other Variants in CFTR