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rs118192179

From SNPedia

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


Make rs118192179(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38579995
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192179
ebirs118192179
HLIrs118192179
Exacrs118192179
Varsomers118192179
Maprs118192179
PheGenIrs118192179
hapmaprs118192179
1000 genomesrs118192179
hgdprs118192179
ensemblrs118192179
gopubmedrs118192179
geneviewrs118192179
scholarrs118192179
googlers118192179
pharmgkbrs118192179
gwascentralrs118192179
openSNPrs118192179
23andMers118192179
23andMe allrs118192179
SNP Nexus

SNPshotrs118192179
SNPdbers118192179
MSV3drs118192179
GWAS Ctlgrs118192179
Max Magnitude3
ClinVar
Risk rs118192179(C;C)
Alt rs118192179(C;C)
Reference rs118192179(T;T)
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.39070635T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000056209.1, RCV000119508.1,


[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.