CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: 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: C0030305
Disease:
Pancreatitis 		0.030 GeneticVariation BEFREE To assess whether CFTR and SPINK1 mutations are co-inherited in pancreatitis, we sequenced SPINK1 gene exon 3 in the 46 patients who were previously identified to be heterozygous for p.Arg75Gln. 24451227 2014
dbSNP: rs1800076
rs1800076
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis 		0.030 GeneticVariation BEFREE The CFTR variant p.R75Q causes a selective defect in bicarbonate conductance and increases risk of pancreatitis. 20977904 2011
dbSNP: rs1800076
rs1800076
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis 		0.030 GeneticVariation BEFREE No other family member (maternal I336K; paternal R75Q; sister I1336K) developed pancreatitis. 10950058 2000