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rs118192180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 can be associated with central core disease
Make rs118192180(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38580090
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192180
ebirs118192180
HLIrs118192180
Exacrs118192180
Varsomers118192180
Maprs118192180
PheGenIrs118192180
hapmaprs118192180
1000 genomesrs118192180
hgdprs118192180
ensemblrs118192180
gopubmedrs118192180
geneviewrs118192180
scholarrs118192180
googlers118192180
pharmgkbrs118192180
gwascentralrs118192180
openSNPrs118192180
23andMers118192180
23andMe allrs118192180
SNP Nexus

SNPshotrs118192180
SNPdbers118192180
MSV3drs118192180
GWAS Ctlgrs118192180
Max Magnitude3
ClinVar
Risk rs118192180(A,T;A,T)
Alt rs118192180(A,T;A,T)
Reference rs118192180(C;C)
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.39070730C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056232.1, RCV000119518.1,


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