rs772223589, CFTR

N. diseases: 3
Disease: Classical cystic fibrosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Classical cystic fibrosis
CUI: C4546076
Disease: Classical cystic fibrosis
0.010 GeneticVariation BEFREE Notably, CFTR mutations not causal for classical cystic fibrosis segregate with unexplained pancreatitis and one of these lies in NBD1 near its ATP-clamp (S573C; close to the Walker B aspartate D572). 20332619 2010