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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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | 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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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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0.800 | GeneticVariation | UNIPROT | Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. | 10732817 | 1997 | |||||||
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0.800 | 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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0.800 | 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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0.800 | GeneticVariation | UNIPROT | Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. | 10732817 | 1997 | |||||||
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0.800 | GeneticVariation | UNIPROT | Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. | 10732817 | 1997 | |||||||
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0.800 | 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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T | 0.700 | GeneticVariation | CLINVAR | 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 | 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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0.800 | GeneticVariation | UNIPROT | Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. | 9837824 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. | 9837824 | 1998 |