Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130

2014
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant. 20150177

2010
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. 8522333

1995
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. 9554753

1998
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152

2005
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene. 9452073

1998
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 12167682

2002
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 8406518

1993
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952

2001
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. 1284529

1992