CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Idiopathic chronic pancreatitis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800076
rs1800076
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0341471
Disease:
Idiopathic chronic pancreatitis 		0.030 GeneticVariation BEFREE To investigate the role of p.Arg75Gln in idiopathic chronic pancreatitis (ICP), we performed genotyping of the CFTR gene in 880 patients with ICP, 198 patients with idiopathic bronchiectasis (IB), 74 patients with classical cystic fibrosis (CF), 48 patients with congenital bilateral absence of the vas deferens (CBAVD) and 148 healthy controls. p.Arg75Gln variant was identified in 3.3% (29/880) of patients with ICP, 3.3% (9/272) patients with a pulmonary disease, 2.1% (1/48) of patients with CBAVD and 4.7% (7/148) of healthy controls. 24451227 2014
dbSNP: rs1800076
rs1800076
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0341471
Disease:
Idiopathic chronic pancreatitis 		0.030 GeneticVariation BEFREE Coinheritance of p.R75Q or CF causing CFTR variants with SPINK1 variants significantly increases the risk of ICP. 20977904 2011
dbSNP: rs1800076
rs1800076
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0341471
Disease:
Idiopathic chronic pancreatitis 		0.030 GeneticVariation BEFREE A variant allele of uncertain significance (p.R75Q) was detected in eight of the 52 ICP subjects and at a similar frequency (13/96) in random donors. 16134171 2005