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: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. 12509422

2003

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR A class of dynamin-like GTPases involved in the generation of the tubular ER network. 19665976

2009

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. 17463283

2007

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

2012

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 The crystal structure of dynamin. 21927001

2011

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding. 7877694

1995

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis. 1828536

1991

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR G domain dimerization controls dynamin's assembly-stimulated GTPase activity. 20428113

2010

dbSNP: rs1554767313
rs1554767313
A 0.700 CausalMutation CLINVAR Predominant and developmentally regulated expression of dynamin in neurons. 1832879

1991

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

2015

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

2011