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rs118192168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 likely severe central core disease
(A;G) 2 carrier for central core disease variant
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position38580403
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192168
ebirs118192168
HLIrs118192168
Exacrs118192168
Varsomers118192168
Maprs118192168
PheGenIrs118192168
hapmaprs118192168
1000 genomesrs118192168
hgdprs118192168
ensemblrs118192168
gopubmedrs118192168
geneviewrs118192168
scholarrs118192168
googlers118192168
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openSNPrs118192168
23andMers118192168
23andMe allrs118192168
SNP Nexus

SNPshotrs118192168
SNPdbers118192168
MSV3drs118192168
GWAS Ctlgrs118192168
Max Magnitude5
OMIM180901
Desc
Variant0022
Relatedalso
ClinVar
Risk rs118192168(A;A)
Alt rs118192168(A;A)
Reference rs118192168(G;G)
Significance Pathogenic
Disease Central core disease Minicore myopathy with external ophthalmoplegia not provided
Variation info
Gene RYR1
CLNDBN Central core disease, autosomal recessive Minicore myopathy with external ophthalmoplegia not provided
Reversed 0
HGVS NC_000019.9:g.39071043G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013855.23, RCV000013856.24, RCV000119527.1,


[PMID 12136074] Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.


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


[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 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.


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


[PMID 18253926] Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.