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rs118192184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 can be associated with central core disease
Make rs118192184(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38585036
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192184
ebirs118192184
HLIrs118192184
Exacrs118192184
Varsomers118192184
Maprs118192184
PheGenIrs118192184
hapmaprs118192184
1000 genomesrs118192184
hgdprs118192184
ensemblrs118192184
gopubmedrs118192184
geneviewrs118192184
scholarrs118192184
googlers118192184
pharmgkbrs118192184
gwascentralrs118192184
openSNPrs118192184
23andMers118192184
23andMe allrs118192184
SNP Nexus

SNPshotrs118192184
SNPdbers118192184
MSV3drs118192184
GWAS Ctlgrs118192184
Max Magnitude3
ClinVar
Risk rs118192184(G;G)
Alt rs118192184(G;G)
Reference rs118192184(A;A)
Significance Pathogenic
Disease Central core disease not provided
Variation info
Gene RYR1
CLNDBN Central core disease not provided
Reversed 0
HGVS NC_000019.9:g.39075676A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000056237.1, RCV000119556.1,


[PMID 11709545] Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.


[PMID 17483490] Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.