Gene: RYR1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192150
rs118192150
RYR1
0.820 GeneticVariation BEFREE Interestingly, in spite of robust localized junctional expression, the R4892W mutant did not affect SR Ca(2+) release in adult muscle fibers, consistent with a low functional penetrance of this particular CCD-associated mutant. 23308296

2013
dbSNP: rs118192150
rs118192150
RYR1
0.820 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361

2012
dbSNP: rs118192150
rs118192150
RYR1
0.820 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146

2012
dbSNP: rs118192150
rs118192150
RYR1
0.820 GeneticVariation BEFREE In this study we report for the first time the functional properties of human myotubes isolated from patients harboring the native RYR1 I4898T and R4893W mutations linked to central core disease. 15299003

2004
dbSNP: rs118192150
rs118192150
RYR1
T 0.820 CausalMutation CLINVAR

dbSNP: rs118192148
rs118192148
RYR1
0.810 GeneticVariation BEFREE Here we evaluated the function of the R4892W and G4896V RyR1 mutants, both associated with central core disease (CCD) in humans, in myotubes and in adult muscle fibers. 23308296

2013
dbSNP: rs118192148
rs118192148
RYR1
0.810 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146

2012
dbSNP: rs118192148
rs118192148
RYR1
0.810 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361

2012
dbSNP: rs118192148
rs118192148
RYR1
T 0.810 CausalMutation CLINVAR

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: rs118192115
rs118192115
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361

2012
dbSNP: rs118192115
rs118192115
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: Multi-minicore disease. 22009146

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

2012
dbSNP: rs118192135
rs118192135
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361

2012
dbSNP: rs118192135
rs118192135
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146

2012
dbSNP: rs118192139
rs118192139
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361

2012
dbSNP: rs118192139
rs118192139
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146

2012
dbSNP: rs118192142
rs118192142
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361

2012
dbSNP: rs118192142
rs118192142
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146

2012
dbSNP: rs118192143
rs118192143
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146

2012
dbSNP: rs118192143
rs118192143
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361

2012
dbSNP: rs118192146
rs118192146
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146

2012
dbSNP: rs118192146
rs118192146
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361

2012
dbSNP: rs118192151
rs118192151
RYR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361

2012