Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. | 28687974 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | SYNE1 mutations in autosomal recessive cerebellar ataxia. | 23959263 | 2013 |
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|
GCC | 0.700 | GeneticVariation | CLINVAR | SYNE1 mutations in autosomal recessive cerebellar ataxia. | 23959263 | 2013 |
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|
GCC | 0.700 | GeneticVariation | CLINVAR | Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. | 23325900 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | SYNE1 mutations in autosomal recessive cerebellar ataxia. | 23959263 | 2013 |
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|
GCC | 0.700 | GeneticVariation | CLINVAR | Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. | 17159980 | 2007 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. | 17159980 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
GT | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |