Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508531
rs397508531
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. 8723693

1996
dbSNP: rs397508531
rs397508531
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. 7543567

1995
dbSNP: rs397508531
rs397508531
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation BEFREE These mutations, representing three different categories--missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)--are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients. 7537150

1995
dbSNP: rs397508531
rs397508531
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: rs397508531
rs397508531
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. 7524909

1994
dbSNP: rs397508531
rs397508531
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: rs397508531
rs397508531
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene. 7683628

1993
dbSNP: rs397508531
rs397508531
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
dbSNP: rs397508531
rs397508531
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT). 1710600

1991
dbSNP: rs397508531
rs397508531
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. 1695717

1990
dbSNP: rs397508531
rs397508531
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		C 0.810 CausalMutation CLINVAR