CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Cystic Fibrosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		AT 0.700 GeneticVariation CLINVAR Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes. 25900089 2016
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		AT 0.700 GeneticVariation CLINVAR Identification and frequencies of cystic fibrosis mutations in central Argentina. 26500004 2016
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		AT 0.700 CausalMutation CLINVAR Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. 23810505 2013
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		AT 0.700 GeneticVariation CLINVAR Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. 23810505 2013
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		AT 0.700 CausalMutation CLINVAR CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent. 16963320 2007
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		AT 0.700 CausalMutation CLINVAR Complete screening of the CFTR gene in Argentine cystic fibrosis patients. 12000363 2002
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		AT 0.700 CausalMutation CLINVAR Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. 10794365 2000
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		AT 0.700 GeneticVariation CLINVAR Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. 10794365 2000