|| cystic fibrosis carrier (most likely)
|| common in clinvar
The CFTR database says this SNP is of unknown significance; ClinVar, citing several sources, indicates it is "likely pathogenic".
named i5011342 by 23andMe
[PMID 1284534] Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.
[PMID 7525450] Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
[PMID 7542223] Study of 12 mutations in Turkish cystic fibrosis patients.
[PMID 10798368] Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A).
[PMID 10923036] Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
[PMID 17331079] Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.