rs397508288, CFTR

N. diseases: 2
Disease: Cystic Fibrosis ×
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 Her cystic fibrosis CFTR (Cystic Fibrosis Transmembrane conductance Regulator) full gene sequence confirmed that she was homozygous for D579G mutation. 26494713 2015
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.820 GeneticVariation BEFREE Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation. 15463898 2004