rs121908803, CFTR

N. diseases: 1
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.820 GeneticVariation BEFREE Case report of 1 patient with long-standing chronic sinus disease and a new diagnosis of CF with a mild mutation (P205S) and a severe mutation (G551D). 25363320 2015
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.820 GeneticVariation BEFREE These residues are conserved across species, and mutations of two (P99L and P205S) are associated with cystic fibrosis. 8663008 1996