Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908757
rs121908757
CFTR
0.720 GeneticVariation BEFREE A standard OGTT was performed before and after 16weeks of treatment with ivacaftor in 2 sibling patients with CF carrying the S549R gating mutation. 26547591

2016
dbSNP: rs121908757
rs121908757
CFTR
0.720 GeneticVariation BEFREE Detailed radiological analyses were performed by a single observer in 12 children with CF from the United Arab Emirates who were homozygous for CFTR mutation S549R (T-->G). 10401194

1999