Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508414
rs397508414
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		TA 0.700 GeneticVariation CLINVAR The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus. 26014425

2016
dbSNP: rs397508414
rs397508414
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		TA 0.700 GeneticVariation CLINVAR The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing. 26708955

2016
dbSNP: rs397508414
rs397508414
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		TA 0.700 GeneticVariation CLINVAR Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions. 25066652

2014
dbSNP: rs397508414
rs397508414
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		TA 0.700 GeneticVariation CLINVAR CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. 24586523

2014
dbSNP: rs397508414
rs397508414
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		TA 0.700 GeneticVariation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs397508414
rs397508414
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		TA 0.700 GeneticVariation CLINVAR Effect of maternal cystic fibrosis genotype on diabetes in pregnancy. 23168765

2012
dbSNP: rs397508414
rs397508414
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		TA 0.700 GeneticVariation CLINVAR Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. 20144563

2010
dbSNP: rs397508414
rs397508414
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		TA 0.700 GeneticVariation CLINVAR Making the diagnosis of cystic fibrosis. 18195584

2008
dbSNP: rs397508414
rs397508414
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		TA 0.700 GeneticVariation CLINVAR Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. 16189704

2005
dbSNP: rs397508414
rs397508414
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		TA 0.700 GeneticVariation CLINVAR Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 12167682

2002
dbSNP: rs397508414
rs397508414
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		TA 0.700 GeneticVariation CLINVAR Complete screening of the CFTR gene in Argentine cystic fibrosis patients. 12000363

2002
dbSNP: rs397508414
rs397508414
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		TA 0.700 GeneticVariation CLINVAR Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations. 11101688

2000