| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 |
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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 |
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G | 0.700 | GeneticVariation | CLINVAR | Late CF caused by homozygous IVS8-5T CFTR polymorphism. | 16263954 | 2005 |
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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 |
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G | 0.700 | GeneticVariation | CLINVAR | Lung disease associated with the IVS8 5T allele of the CFTR gene. | 11069835 | 2000 |
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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 |
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G | 0.700 | GeneticVariation | CLINVAR | Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. | 7739684 | 1995 |
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G | 0.700 | GeneticVariation | CLINVAR | A mutation in CFTR produces different phenotypes depending on chromosomal background. | 7506096 | 1993 |
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G | 0.700 | GeneticVariation | CLINVAR | Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. | 7684646 | 1993 |
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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 |