Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777176261
rs777176261
BIN1
0.800 GeneticVariation UNIPROT A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. 29950440

2018
dbSNP: rs777176261
rs777176261
BIN1
A 0.800 GeneticVariation CLINVAR A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. 29950440

2018
dbSNP: rs777176261
rs777176261
BIN1
0.800 GeneticVariation UNIPROT Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization. 24755653

2014
dbSNP: rs777176261
rs777176261
BIN1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344

2012
dbSNP: rs777176261
rs777176261
BIN1
0.800 GeneticVariation UNIPROT Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. 20142620

2010
dbSNP: rs777176261
rs777176261
BIN1
0.800 GeneticVariation UNIPROT Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042

2007
dbSNP: rs777176261
rs777176261
BIN1
A 0.800 CausalMutation CLINVAR