rs11971167, CFTR

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation BEFREE The p.[Arg74Trp;Asp1270Asn] and the p.Asp1270Asn have scarce functional effects, while p.[Arg74Trp;Val201Met;Asp1270Asn] caused mild CF in four of five subjects carrying a class I-II mutation <i>in trans</i>, or CFTR-related disorders (CFTR-RD) in three having <i>in trans</i> a class IV-V mutation. 27738188 2017
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758 2015
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289 2014
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130 2014
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation BEFREE Nine variants (CFTR R74Q, R75Q, R117H, R170H, L967S, L997F, D1152H, S1235R, and D1270N) not associated with typical CF were associated with pancreatitis (OR 1.5, p = 0.002). 25033378 2014
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884 2012
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883 2011
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation BEFREE [R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. 20880762 2010
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678 2010
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539 2010
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064 2009
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 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
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445 2009
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616 2007
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152 2005
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352 2003
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.730 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952 2001
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
0.720 GeneticVariation BEFREE The triple mutant p.[R74W;V201M;D1270N] allele associated with the unknown p.P841R mutations were detected in this man with congenital bilateral absence of the vas deferens, which may presume p.P841R as a severe mutation. 18703181 2008
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
0.720 GeneticVariation BEFREE We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism, while D1270N cystic fibrosis transmembrane conductance regulator could be responsible for the congenital bilateral absence of the vas deferens phenotype. 10386624 1999
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
0.720 GeneticVariation UNIPROT
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
0.010 GeneticVariation BEFREE Nine variants (CFTR R74Q, R75Q, R117H, R170H, L967S, L997F, D1152H, S1235R, and D1270N) not associated with typical CF were associated with pancreatitis (OR 1.5, p = 0.002). 25033378 2014