Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909019
rs121909019
CFTR
0.810 GeneticVariation UNIPROT Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure. 15528182

2005
dbSNP: rs121909019
rs121909019
CFTR
0.810 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014
dbSNP: rs121909019
rs121909019
CFTR
0.810 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012
dbSNP: rs121909019
rs121909019
CFTR
0.810 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007
dbSNP: rs121909019
rs121909019
CFTR
0.810 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010
dbSNP: rs121909019
rs121909019
CFTR
0.810 GeneticVariation UNIPROT A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. 7524909

1994
dbSNP: rs121909019
rs121909019
CFTR
0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883

2011
dbSNP: rs121909019
rs121909019
CFTR
0.810 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352

2003
dbSNP: rs121909019
rs121909019
CFTR
0.810 GeneticVariation UNIPROT Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant. 20150177

2010
dbSNP: rs121909019
rs121909019
CFTR
0.810 GeneticVariation UNIPROT Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT). 1710600

1991
dbSNP: rs121909019
rs121909019
CFTR
0.810 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952

2001