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: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 GeneticVariation CLINVAR Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation. 29178639 2017
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 CausalMutation CLINVAR The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing. 26708955 2016
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 CausalMutation CLINVAR Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. 23687349 2013
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 CausalMutation CLINVAR Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens. 20100616 2010
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 GeneticVariation CLINVAR CFTR H609R mutation in Ecuadorian patients with cystic fibrosis. 19457724 2009
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 CausalMutation CLINVAR CFTR H609R mutation in Ecuadorian patients with cystic fibrosis. 19457724 2009
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.710 GeneticVariation BEFREE CFTR H609R mutation in Ecuadorian patients with cystic fibrosis. 19457724 2009
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 CausalMutation CLINVAR CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent. 16963320 2007
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 GeneticVariation CLINVAR Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. 16189704 2005
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 CausalMutation CLINVAR Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. 16189704 2005
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 CausalMutation CLINVAR Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. 14685937 2004
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 GeneticVariation CLINVAR CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs. 12938099 2003
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 CausalMutation CLINVAR CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs. 12938099 2003
dbSNP: rs397508310
rs397508310
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.710 CausalMutation CLINVAR Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis. 11883825 2002