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rs118192164

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 3 susceptibility to central core disease
Make rs118192164(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38525455
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192164
ebirs118192164
HLIrs118192164
Exacrs118192164
Varsomers118192164
Maprs118192164
PheGenIrs118192164
hapmaprs118192164
1000 genomesrs118192164
hgdprs118192164
ensemblrs118192164
gopubmedrs118192164
geneviewrs118192164
scholarrs118192164
googlers118192164
pharmgkbrs118192164
gwascentralrs118192164
openSNPrs118192164
23andMers118192164
23andMe allrs118192164
SNP Nexus

SNPshotrs118192164
SNPdbers118192164
MSV3drs118192164
GWAS Ctlgrs118192164
Max Magnitude3
OMIM180901
Desc
Variant0021
Relatedalso
ClinVar
Risk rs118192164(T;T)
Alt rs118192164(T;T)
Reference rs118192164(C;C)
Significance Pathogenic
Disease Central core disease not provided
Variation info
Gene RYR1
CLNDBN Central core disease, autosomal recessive not provided
Reversed 0
HGVS NC_000019.9:g.39016095C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013854.24, RCV000119413.1,


[PMID 12112081] A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.


[PMID 16372898OA-icon.png] Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.


[PMID 17204937] Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.