Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909011
rs121909011
CFTR
0.850 GeneticVariation BEFREE Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W. 9039981

1997
dbSNP: rs121909011
rs121909011
CFTR
0.850 GeneticVariation BEFREE Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient. 8844211

1996
dbSNP: rs121909011
rs121909011
CFTR
0.850 GeneticVariation BEFREE The data provided here for mutation R334W demonstrate that this mutation is responsible for a less severe form of CF than delta F508. 7868128

1995
dbSNP: rs121909011
rs121909011
CFTR
0.850 GeneticVariation BEFREE R1162X and R334W, mutations identified in Spain and Italy, each occurred on 1.6% (2/129) of CF chromosomes. 7509564

1994
dbSNP: rs121909011
rs121909011
CFTR
0.850 GeneticVariation BEFREE Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis. 7680769

1993