CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Congenital bilateral aplasia of vas deferens ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs73715573
rs73715573
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.700 GeneticVariation CLINVAR Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. 17314234 2007
dbSNP: rs73715573
rs73715573
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.700 GeneticVariation CLINVAR Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes. 16020494 2005
dbSNP: rs73715573
rs73715573
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.700 GeneticVariation CLINVAR Late CF caused by homozygous IVS8-5T CFTR polymorphism. 16263954 2005
dbSNP: rs73715573
rs73715573
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.700 GeneticVariation CLINVAR Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. 14685937 2004
dbSNP: rs73715573
rs73715573
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.700 GeneticVariation CLINVAR Lung disease associated with the IVS8 5T allele of the CFTR gene. 11069835 2000
dbSNP: rs73715573
rs73715573
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.700 GeneticVariation CLINVAR Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. 9435322 1998
dbSNP: rs73715573
rs73715573
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.700 GeneticVariation CLINVAR Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. 7739684 1995
dbSNP: rs73715573
rs73715573
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.700 GeneticVariation CLINVAR A mutation in CFTR produces different phenotypes depending on chromosomal background. 7506096 1993
dbSNP: rs73715573
rs73715573
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.700 GeneticVariation CLINVAR Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. 7684646 1993
dbSNP: rs73715573
rs73715573
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.700 GeneticVariation CLINVAR Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis. 1381723 1992