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: rs397508139
rs397508139
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis 		0.010 GeneticVariation BEFREE No other family member (maternal I336K; paternal R75Q; sister I1336K) developed pancreatitis. 10950058 2000