Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758

2015
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130

2014
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883

2011
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539

2010
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445

2009
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. 19914443

2009
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152

2005
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352

2003
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
T 0.810 GeneticVariation CLINVAR As expected, the G480C cystic fibrosis mouse model expresses the G480C mutant transcript at a level comparable to that of wild-type CFTR: The homozygous mutant mice were fertile, had normal survival, weight, tooth colour and no evidence of caecal blockage, despite mild goblet cell hypertrophy in the intestine. 11823443

2002
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
T 0.810 GeneticVariation CLINVAR Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. 11388756

2001
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952

2001
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation BEFREE G480C was found on one additional CF chromosome and on none of 220 normal chromosomes, including 160 chromosomes from normal African-American individuals. 7757078

1995
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
T 0.810 GeneticVariation CLINVAR G480C was found on one additional CF chromosome and on none of 220 normal chromosomes, including 160 chromosomes from normal African-American individuals. 7757078

1995
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
T 0.810 GeneticVariation CLINVAR This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T. 1376016

1992
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
T 0.810 CausalMutation CLINVAR