DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: Centronuclear myopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C0175709
Disease:
Centronuclear myopathy 		0.710 GeneticVariation BEFREE In contrast, an R369W mutant identified in CNM patients forms higher-order oligomers at concentrations above 1μM. 24016602 2014
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C0175709
Disease:
Centronuclear myopathy 		T 0.710 CausalMutation CLINVAR