Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922839
rs193922839
RYR1
A 0.700 CausalMutation CLINVAR RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. 23553787

2013
dbSNP: rs193922839
rs193922839
RYR1
A 0.700 CausalMutation CLINVAR Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. 22473935

2012
dbSNP: rs193922839
rs193922839
RYR1
A 0.700 CausalMutation CLINVAR A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. 19645060

2009
dbSNP: rs193922839
rs193922839
RYR1
A 0.700 CausalMutation 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: rs193922839
rs193922839
RYR1
A 0.700 CausalMutation CLINVAR Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. 17483490

2007