SMARCAL1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1, 50485
N. diseases: 109; N. variants: 22
Source: ALL
| 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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T | 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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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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CCTGGGG | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | ||||||
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0.710 | GeneticVariation | UNIPROT | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | ||||||
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0.700 | GeneticVariation | UNIPROT | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | |||||||
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G | 0.700 | CausalMutation | CLINVAR | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. | 15880370 | 2005 | ||||||
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0.010 | GeneticVariation | BEFREE | The novel R561C missense mutation in our patient with mild SIOD is additional evidence for the genotype-phenotype correlation reported for SMARCAL1 mutations. | 16237566 | 2005 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | Schimke immuno-osseous dysplasia: a clinicopathological correlation. | 16840568 | 2007 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Schimke immunoosseous dysplasia: suggestions of genetic diversity. | 17089404 | 2007 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | HARP is an ATP-driven annealing helicase. | 18974355 | 2008 | ||||||
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0.800 | GeneticVariation | UNIPROT | HARP is an ATP-driven annealing helicase. | 18974355 | 2008 |