Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Extensive molecular analysis of patients bearing CFTR-related disorders. 22020151

2012
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. 22658665

2012
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients. 21909392

2011
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis. 21811577

2011
dbSNP: rs79850223
rs79850223
CFTR
0.710 GeneticVariation BEFREE Twelve different CFTR mutations accounted for 90% (123/136) of CF alleles, including F508del (47.06%), E1104X (16.18%), N1303K (6.62%), 711 + 1T > G (5.88%), W1282X (4.41%), G542X (3.67%), R1158X (1.47%), 4016insT (0.74%), and R785X (0.74%). 19715466

2009
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India. 17716958

2008
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578

2008
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. 15371902

2005
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. 15371903

2005
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients. 15176679

2004
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. 11388756

2001
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Mild clinical phenotype associated with R1158X/S549R(T-->G) CFTR genotype. 11005149

2000
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Correlation between mutations and age in cystic fibrosis in a French Canadian population. 10777368

2000
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease. 10439967

1999
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations. 10388469

1999
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations. 9003508

1997
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. 8707306

1996
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Here, we describe a three-generation CF family with a complex CFTR allele that has not been previously described, containing the missense mutation R334W in exon 7 and the nonsense mutation R1158X in exon 19. 8844211

1996
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. 7513293

1994
dbSNP: rs79850223
rs79850223
CFTR
T 0.710 CausalMutation CLINVAR A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene. 1371265

1992