|| common in clinvar
|| carrier of a cystic fibrosis allele
rs121908799, also known as 2183AA->G, 2051_2052delAAinsG and Lys684SerfsTer38, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.
23andMe refers to this SNP as i5011482 and i4000319
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
[PMID 15371902] Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
[PMID 7517268] Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.
[PMID 7525450] Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
[PMID 7543317] Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.
[PMID 15176679] Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients.
[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.