| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.010 | GeneticVariation | BEFREE | Presence of the CP-increasing alleles in rs11708215 and rs13072552, however, were significantly associated with lower risk of AF in whites (HR 0.84, 95%CI 0.76, 0.94, p=0.002 and HR 0.83; 95%CI 0.69, 0.99, p=0.043 respectively per CP-increasing allele in the final adjusted model) but not in African Americans. | 28427851 | 2017 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.710 | CausalMutation | CLINVAR | |||||||||
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0.710 | GeneticVariation | BEFREE | To elucidate the molecular pathogenesis of aceruloplasminemia, the biosynthesis of a missense mutant ceruloplasmin (P177R) occurring in an affected patient was examined. | 11689569 | 2002 | |||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | Movement disorders and brain iron overload in a new subtype of aceruloplasminemia. | 25864092 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia? | 26777753 | 2016 | ||||||
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GCA | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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TC | 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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C | 0.700 | CausalMutation | CLINVAR | A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity. | 11909923 | 2002 | ||||||
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A | 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 | CausalMutation | CLINVAR | Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. | 15082597 | 2004 | ||||||
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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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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR |