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rs118192165

From SNPedia

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


Make rs118192165(-;-)
ReferenceGRCh38 38.1/141
Chromosome19
Position38564974
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192165
ebirs118192165
HLIrs118192165
Exacrs118192165
Varsomers118192165
Maprs118192165
PheGenIrs118192165
hapmaprs118192165
1000 genomesrs118192165
hgdprs118192165
ensemblrs118192165
gopubmedrs118192165
geneviewrs118192165
scholarrs118192165
googlers118192165
pharmgkbrs118192165
gwascentralrs118192165
openSNPrs118192165
23andMers118192165
23andMe allrs118192165
SNP Nexus

SNPshotrs118192165
SNPdbers118192165
MSV3drs118192165
GWAS Ctlgrs118192165
Max Magnitude3
OMIM180901
Desc
Variant0018
Relatedalso
ClinVar
Risk rs118192165(;)
Alt rs118192165(;)
Reference rs118192165(CGCCAGTTC;CGCCAGTTC)
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.39055614_39055622delCGCCAGTTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000013851.17, RCV000119463.1,


[PMID 11389482OA-icon.png] Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.


[PMID 16958053] Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.


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