Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517068
rs1057517068
CFTR
AT 0.700 GeneticVariation CLINVAR Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes. 25900089

2016
dbSNP: rs1057517068
rs1057517068
CFTR
AT 0.700 GeneticVariation CLINVAR Identification and frequencies of cystic fibrosis mutations in central Argentina. 26500004

2016
dbSNP: rs1057517068
rs1057517068
CFTR
AT 0.700 CausalMutation CLINVAR Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. 23810505

2013
dbSNP: rs1057517068
rs1057517068
CFTR
AT 0.700 GeneticVariation CLINVAR Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. 23810505

2013
dbSNP: rs1057517068
rs1057517068
CFTR
AT 0.700 CausalMutation CLINVAR CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent. 16963320

2007
dbSNP: rs1057517068
rs1057517068
CFTR
AT 0.700 CausalMutation CLINVAR Complete screening of the CFTR gene in Argentine cystic fibrosis patients. 12000363

2002
dbSNP: rs1057517068
rs1057517068
CFTR
AT 0.700 CausalMutation CLINVAR Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. 10794365

2000
dbSNP: rs1057517068
rs1057517068
CFTR
AT 0.700 GeneticVariation CLINVAR Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. 10794365

2000