Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508288
rs397508288
CFTR
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
dbSNP: rs397508288
rs397508288
CFTR
0.820 GeneticVariation BEFREE Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation. 15463898

2004