Source: ALL
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
C 0.720 CausalMutation CLINVAR The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. 24440181

2014
dbSNP: rs121908757
rs121908757
CFTR
C 0.720 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs121908757
rs121908757
CFTR
C 0.720 CausalMutation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578

2008
dbSNP: rs121908757
rs121908757
CFTR
C 0.720 CausalMutation CLINVAR Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population. 15638824

2005
dbSNP: rs121908757
rs121908757
CFTR
C 0.720 CausalMutation CLINVAR European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations. 11180668

2001
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
dbSNP: rs121908757
rs121908757
CFTR
C 0.720 CausalMutation CLINVAR A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis. 1903761

1991