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rs118192117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192117(C;C)
Make rs118192117(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38451846
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192117
ebirs118192117
HLIrs118192117
Exacrs118192117
Varsomers118192117
Maprs118192117
PheGenIrs118192117
hapmaprs118192117
1000 genomesrs118192117
hgdprs118192117
ensemblrs118192117
gopubmedrs118192117
geneviewrs118192117
scholarrs118192117
googlers118192117
pharmgkbrs118192117
gwascentralrs118192117
openSNPrs118192117
23andMers118192117
23andMe allrs118192117
SNP Nexus

SNPshotrs118192117
SNPdbers118192117
MSV3drs118192117
GWAS Ctlgrs118192117
Max Magnitude0
ClinVar
Risk rs118192117(C;C)
Alt rs118192117(C;C)
Reference rs118192117(T;T)
Significance Pathogenic
Disease Congenital myopathy with fiber type disproportion Central core disease not provided
Variation info
Gene RYR1
CLNDBN Congenital myopathy with fiber type disproportion Central core disease not provided
Reversed 0
HGVS NC_000019.9:g.38942486T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034926.1, RCV000056214.1, RCV000119451.1,


[PMID 17033962OA-icon.png] Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.


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


[PMID 20583297] Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.