Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation BEFREE N1303K is one of the most frequent non-delta F508 mutations causing cystic fibrosis in Central Europe. 1372094

1992
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation BEFREE N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes. 1380943

1992
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes. 1380943

1992
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene. 9452073

1998
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. 1695717

1990
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. 23951356

2013
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates. 12529365

2003
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR A mutation in the second nucleotide binding fold of the cystic fibrosis gene. 1998343

1991
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. 7524909

1994
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. 8723693

1996
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. 7543567

1995
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes. 16822950

2007
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 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: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883

2011
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation BEFREE Co-potentiator efficacy was confirmed in primary human bronchial epithelial cell cultures generated from a N1303K homozygous CF subject. 31776420

2019
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. 21520337

2011
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445

2009
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 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: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. 15371902

2005
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152

2005
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. 22658665

2012
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation BEFREE Deletion of Phe<sup>508</sup> (ΔF508), the most prevalent mutation in CF, and other mutations in CFTR that impair its trafficking, such as N1303K, also led to quantitative and qualitative PTM changes that prevented the maturation of misfolded CFTR. 30600261

2019