CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: pancreatitis idiopathic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800111
rs1800111
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0747198
Disease:
pancreatitis idiopathic 		0.010 GeneticVariation BEFREE Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with a heterozygous p.L997F missense mutation in the unlinked CFTR gene, a lesion previously reported to be associated with a variety of cystic fibrosis-related diseases including idiopathic pancreatitis. 17681820 2007