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rs118192183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 can be associated with central core disease
(G;G) 0 common in clinvar


Make rs118192183(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position38584992
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192183
ebirs118192183
HLIrs118192183
Exacrs118192183
Varsomers118192183
Maprs118192183
PheGenIrs118192183
hapmaprs118192183
1000 genomesrs118192183
hgdprs118192183
ensemblrs118192183
gopubmedrs118192183
geneviewrs118192183
scholarrs118192183
googlers118192183
pharmgkbrs118192183
gwascentralrs118192183
openSNPrs118192183
23andMers118192183
23andMe allrs118192183
SNP Nexus

SNPshotrs118192183
SNPdbers118192183
MSV3drs118192183
GWAS Ctlgrs118192183
Max Magnitude3
ClinVar
Risk rs118192183(A;A)
Alt rs118192183(A;A)
Reference rs118192183(G;G)
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.39075632G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000056195.1, RCV000119554.1,


[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 16621918] Central core disease is due to RYR1 mutations in more than 90% of patients.