SMN2, survival of motor neuron 2, centromeric, 6607
N. diseases: 299; N. variants: 35
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.700 | GeneticVariation | UNIPROT | Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). | 9158159 | 1997 | |||||||
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0.700 | GeneticVariation | UNIPROT | Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. | 10732817 | 1997 | |||||||
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0.700 | GeneticVariation | UNIPROT | Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). | 9158159 | 1997 | |||||||
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0.700 | GeneticVariation | UNIPROT | Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. | 10732817 | 1997 | |||||||
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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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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | This is the first report where the phenotype of SMA-type III is associated with p.Leu228X. | 24085424 | 2013 |