Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017

dbSNP: rs1554767317
rs1554767317
A 0.700 GeneticVariation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016

dbSNP: rs1554767317
rs1554767317
A 0.700 GeneticVariation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016

dbSNP: rs1554767317
rs1554767317
A 0.700 GeneticVariation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

dbSNP: rs1554767317
rs1554767317
A 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014

dbSNP: rs1554767317
rs1554767317
A 0.700 GeneticVariation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955

2013

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021

2013

dbSNP: rs1554767317
rs1554767317
A 0.700 GeneticVariation CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021

2013

dbSNP: rs1554767317
rs1554767317
A 0.700 GeneticVariation CLINVAR Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955

2013

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR Dynamin, a membrane-remodelling GTPase. 22233676

2012

dbSNP: rs1554767317
rs1554767317
A 0.700 GeneticVariation CLINVAR Dynamin, a membrane-remodelling GTPase. 22233676

2012

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. 22099461

2011

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 21441247

2011

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I. 21926968

2011

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR The crystal structure of dynamin. 21927001

2011

dbSNP: rs1554767317
rs1554767317
A 0.700 GeneticVariation CLINVAR Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. 22099461

2011

dbSNP: rs1554767317
rs1554767317
A 0.700 GeneticVariation CLINVAR Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I. 21926968

2011

dbSNP: rs1554767317
rs1554767317
A 0.700 GeneticVariation CLINVAR The crystal structure of dynamin. 21927001

2011

dbSNP: rs1554767317
rs1554767317
A 0.700 GeneticVariation CLINVAR SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 21441247

2011

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. 20700442

2010