Have questions? Visit https://www.reddit.com/r/SNPedia

rs118192181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 can be associated with central core disease
Make rs118192181(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38580439
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192181
ebirs118192181
HLIrs118192181
Exacrs118192181
Varsomers118192181
Maprs118192181
PheGenIrs118192181
hapmaprs118192181
1000 genomesrs118192181
hgdprs118192181
ensemblrs118192181
gopubmedrs118192181
geneviewrs118192181
scholarrs118192181
googlers118192181
pharmgkbrs118192181
gwascentralrs118192181
openSNPrs118192181
23andMers118192181
23andMe allrs118192181
SNP Nexus

SNPshotrs118192181
SNPdbers118192181
MSV3drs118192181
GWAS Ctlgrs118192181
Max Magnitude3
ClinVar
Risk rs118192181(T;T)
Alt rs118192181(T;T)
Reference rs118192181(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.39071079C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056233.1, RCV000119532.1,


[PMID 12565913] Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.


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


[PMID 17226826] Central core disease due to recessive mutations in RYR1 gene: is it more common than described?


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