rs397508476, CFTR

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.700 GeneticVariation CLINVAR Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations. 22299590 2012
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.700 GeneticVariation CLINVAR A haplotype framework for cystic fibrosis mutations in Iran. 16436643 2006
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.700 GeneticVariation CLINVAR Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening. 16596947 2005
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.700 CausalMutation CLINVAR