rs78802634, CFTR

N. diseases: 4
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
0.710 GeneticVariation BEFREE Complete sequencing of the CFTR gene by next generation sequencing (NGS) revealed two different variants in trans, including the previously reported CF-causing variant c.3266G > A (p.Trp1089*, W1089*), that was inherited from the mother, and the novel/de novo CFTR variant c.1762G > T (p.Glu588*). 31118044 2019
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870 2013
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 CausalMutation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578 2008
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 CausalMutation CLINVAR Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21. 7520798 1994
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 CausalMutation CLINVAR Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. 1284534 1992
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
0.700 CausalMutation CLINVAR
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
0.700 CausalMutation CLINVAR
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
0.700 CausalMutation CLINVAR