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rs118192116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 can be associated with central core disease
Make rs118192116(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38451850
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192116
ebirs118192116
HLIrs118192116
Exacrs118192116
Varsomers118192116
Maprs118192116
PheGenIrs118192116
hapmaprs118192116
1000 genomesrs118192116
hgdprs118192116
ensemblrs118192116
gopubmedrs118192116
geneviewrs118192116
scholarrs118192116
googlers118192116
pharmgkbrs118192116
gwascentralrs118192116
openSNPrs118192116
23andMers118192116
23andMe allrs118192116
SNP Nexus

SNPshotrs118192116
SNPdbers118192116
MSV3drs118192116
GWAS Ctlgrs118192116
Max Magnitude3
OMIM180901
Desc
Variant0005
Relatedalso
ClinVar
Risk rs118192116(G;G)
Alt rs118192116(G;G)
Reference rs118192116(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.38942490C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013835.19, RCV000119453.1,