AIFM1, apoptosis inducing factor mitochondria associated 1, 9131
N. diseases: 205; N. variants: 23
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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AG | 0.700 | GeneticVariation | CLINVAR | |||||||||
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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 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | We identified two missense mutations in AIFM1 in these families: c.1352G>A (p.R451Q) in the AUNX1 family and c.1030C>T (p.L344F) in the second ANSD family. | 25986071 | 2015 | |||||||
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0.010 | GeneticVariation | BEFREE | We identified two missense mutations in AIFM1 in these families: c.1352G>A (p.R451Q) in the AUNX1 family and c.1030C>T (p.L344F) in the second ANSD family. | 25986071 | 2015 | |||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. | 23217327 | 2012 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis. | 26004228 | 2015 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.800 | GeneticVariation | CLINVAR | |||||||||
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T | 0.800 | GeneticVariation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.800 | GeneticVariation | CLINVAR |