|| common in clinvar
|| Cystic Fibrosis carrier
rs78756941, also known as 621+1G>T or 489+1G>T, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.
23andMe has at least three terms in use for rs78756941: i4000314, i5010909 and i6056291.
[PMID 1536179] Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.
[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 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.