Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80034486
rs80034486
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

dbSNP: rs80034486
rs80034486
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE We have used this stabilized background to study the effects of NBD2 mutations identified in cystic fibrosis (CF) patients, demonstrating that mutants such as N1303K and G1349D are characterized by lower stability, as shown previously for some NBD1 mutations, suggesting a potential role for NBD2 instability in the pathology of CF. 28655774

2017

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE Options for pharmacological correction of CFTR-p.Phe508del (F508del) are being extensively studied but correction of other trafficking mutants that may also benefit from corrector treatment remains largely unknown.We studied correction of the folding mutants CFTR-p.Phe508del, -p.Ala455Glu (A455E) and -p.Asn1303Lys (N1303K) by VX-809 and 18 other correctors (C1-C18) using a functional CFTR assay in human intestinal CF organoids.Function of both CFTR-p.Phe508del and -p.Ala455Glu was enhanced by a variety of correctors but no residual or corrector-induced activity was associated with CFTR-p.Asn1303Lys. 27103391

2016

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
G 0.900 CausalMutation CLINVAR Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation. 25799511

2015

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758

2015

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
G 0.900 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130

2014

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations. 24310628

2014

dbSNP: rs80034486
rs80034486
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
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
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012

dbSNP: rs80034486
rs80034486
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
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 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: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures. 20008117

2010

dbSNP: rs80034486
rs80034486
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539

2010

dbSNP: rs80034486
rs80034486
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
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
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE Twelve different CFTR mutations accounted for 90% (123/136) of CF alleles, including F508del (47.06%), E1104X (16.18%), N1303K (6.62%), 711 + 1T > G (5.88%), W1282X (4.41%), G542X (3.67%), R1158X (1.47%), 4016insT (0.74%), and R785X (0.74%). 19715466

2009

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

2007