CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Acute recurrent pancreatitis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800080
rs1800080
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0267937
Disease:
Acute recurrent pancreatitis 		0.010 GeneticVariation BEFREE At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease. 20950468 2010