| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
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0.800 | GeneticVariation | UNIPROT | IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. | 17468754 | 2007 | |||||||
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0.800 | GeneticVariation | UNIPROT | IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. | 17468754 | 2007 | |||||||
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
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|
G | 0.800 | CausalMutation | CLINVAR | |||||||||
|
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|
A | 0.700 | GeneticVariation | GWASCAT | Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci. | 30837455 | 2019 | ||||||
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|
T | 0.700 | GeneticVariation | GWASCAT | Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. | 30275531 | 2018 | ||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. | 19610081 | 2009 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. | 17468754 | 2007 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR |