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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G | 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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C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | Clinical and molecular characterization of de novo loss of function variants in HNRNPU. | 28815871 | 2017 |
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A | 0.700 | CausalMutation | CLINVAR | Clinical and molecular characterization of de novo loss of function variants in HNRNPU. | 28815871 | 2017 |
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|
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C | 0.700 | CausalMutation | CLINVAR | Clinical and molecular characterization of de novo loss of function variants in HNRNPU. | 28815871 | 2017 |
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
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A | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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|
A | 0.700 | CausalMutation | CLINVAR | CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. | 25735478 | 2015 |
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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AAAGT | 0.700 | CausalMutation | CLINVAR | ||||||||||
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|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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|
T | 0.700 | GeneticVariation | CLINVAR | SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. | 29211846 | 2018 |
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AG | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR |