Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. | 16627867 | 2006 |
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G | 0.700 | CausalMutation | CLINVAR | Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. | 11788826 | 2002 |
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G | 0.700 | CausalMutation | CLINVAR | ||||||||||
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TCCCC | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. | 24150548 | 2014 |
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C | 0.700 | GeneticVariation | CLINVAR | New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. | 20513915 | 2010 |
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C | 0.700 | GeneticVariation | CLINVAR | Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. | 22184204 | 2012 |
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C | 0.700 | GeneticVariation | CLINVAR | Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. | 18022865 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. | 23849778 | 2013 |
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | ||||||||||
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CT | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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CT | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. | 16627867 | 2006 |
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G | 0.700 | CausalMutation | CLINVAR | Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. | 22416021 | 2012 |