Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516216
rs1057516216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516232
rs1057516232
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.700 GeneticVariation CLINVAR A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis. 25910067

2015
dbSNP: rs1057516236
rs1057516236
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516387
rs1057516387
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		ACT 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516415
rs1057516415
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516457
rs1057516457
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516609
rs1057516609
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516619
rs1057516619
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		T 0.710 GeneticVariation CLINVAR As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for c.865A>T and c.3651_3652insAAAT. 26471113

2017
dbSNP: rs1057516619
rs1057516619
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.710 GeneticVariation BEFREE As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for c.865A>T and c.3651_3652insAAAT. 26471113

2017
dbSNP: rs1057516646
rs1057516646
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516970
rs1057516970
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517032
rs1057517032
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517068
rs1057517068
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
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
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
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
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
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
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
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
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		AT 0.700 CausalMutation CLINVAR Complete screening of the CFTR gene in Argentine cystic fibrosis patients. 12000363

2002
dbSNP: rs1057517068
rs1057517068
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		AT 0.700 CausalMutation CLINVAR Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. 10794365

2000
dbSNP: rs1057517068
rs1057517068
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		AT 0.700 GeneticVariation CLINVAR Identification and frequencies of cystic fibrosis mutations in central Argentina. 26500004

2016
dbSNP: rs1057517068
rs1057517068
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		AT 0.700 GeneticVariation CLINVAR Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. 10794365

2000
dbSNP: rs1057517276
rs1057517276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		GA 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517342
rs1057517342
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		GTACA 0.700 CausalMutation CLINVAR

dbSNP: rs1057517342
rs1057517342
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		GTACA 0.700 GeneticVariation CLINVAR Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. 15858154

2005
dbSNP: rs1057517404
rs1057517404
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		GAA 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503164
rs1060503164
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.700 GeneticVariation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013