Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192130
rs118192130
RYR1
A 0.800 GeneticVariation CLINVAR A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy. 25747005

2015
dbSNP: rs118192130
rs118192130
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146

2012
dbSNP: rs118192130
rs118192130
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361

2012
dbSNP: rs118192130
rs118192130
RYR1
A 0.800 GeneticVariation CLINVAR Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. 18253926

2008
dbSNP: rs118192130
rs118192130
RYR1
A 0.800 GeneticVariation CLINVAR Central core disease due to recessive mutations in RYR1 gene: is it more common than described? 17226826

2007
dbSNP: rs118192130
rs118192130
RYR1
A 0.800 CausalMutation CLINVAR