SYT1, synaptotagmin 1, 6857
N. diseases: 460; N. variants: 15
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 | GeneticVariation | CLINVAR | SYT1-associated neurodevelopmental disorder: a case series. | 30107533 | 2018 | ||||||
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C | 0.800 | GeneticVariation | CLINVAR | Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. | 25705886 | 2015 | ||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | SYT1-associated neurodevelopmental disorder: a case series. | 30107533 | 2018 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | SYT1-associated neurodevelopmental disorder: a case series. | 30107533 | 2018 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | SYT1-associated neurodevelopmental disorder: a case series. | 30107533 | 2018 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | SYT1-associated neurodevelopmental disorder: a case series. | 30107533 | 2018 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. | 25712080 | 2015 | ||||||
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G | 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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A | 0.700 | CausalMutation | CLINVAR |